Paediatrics Flashcards
(39 cards)
most likely correct in regards to congenital cataracts?
IOL implantation has not been shown to confer protection against post-operative glaucoma.
When it comes to congenital cataract management, two notable large cohort studies are IOLunder2 and Infant Aphakia Treatment Studies (IATS). These studies provide evidence that:
Post-operative vision for infants who receive concurrent IOL implantation vs aphakia plus contact lens is similar IOL implantation does not give protection against post-operative glaucoma Visual axis opacification is more common and occurs earlier with use of IOLs in children under the age of two versus aphakia
Unilateral cataracts is more amblyogenic compared to bilateral cataracts. The latent period for unilateral cataract is 6-8 weeks while for bilateral cataract is 8-12 weeks. Operating after these times would result in a much poorer outcome.
All wounds should be sutured with absorbable sutures such as 10/0 vicryl to prevent wound leak.
A 2 year old child is being examined but is refusing to engage and look at your plastic duck toy. In this difficult but uncommon situation, these tests can be used to screen for misalignment of her eyes, except:
cover -uncover test
Corneal light reflexes can be used to assess alignment of eyes using the location of the first Purkinje image. Although not as accurate as cover tests, they are useful in situations where cover testing is impossible e.g. uncooperative patients, very poor or eccentric fixation. These include:
Hirschberg test: Extent of displacement of corneal light reflex from centre gives an approximation of angle size, e.g. 30PD or 15 degrees if reflex at pupil margin*
Krimsky test: Prisms are used to quantify the deviation by holding prisms over either eye and adjusting prism power until corneal reflection is symmetrically positioned in each eye
The Bruckner test is another test that can used to screen for misalignment.
The direct ophthalmoscope is used to obtain a red reflex simulateously in both eyes. Because foveation will dim the red reflex, if there is ocular misalignment, the deviated eye will have lighter and brighter reflex
Foveation of the ophthalmoscope filament dims the red reflex. If strabismus is pres ent, the deviated eye will have a lighter and brighter reflex than the fixing eye.
The cover-uncover test is unsuitable in this situation as the test relies on the patient maintaining constant fixation on an accommodative target.
features would warrant immediate treatment for orbital floor fracture?
A white-eyed trapdoor fracture in a young patient is an indication for immediate surgical repair of an orbital floor fracture. The other options would warrant early surgical repair but could likely wait to be done within 2 weeks.
Surgical repair of orbital floor fractures indications and timing:
Immediate treatment required:
Persistent oculo-cardiac reflex
White-eyed trapdoor fracture in young patients
Significant facial asymmetry
Early (<2 weeks) treatment required:
Fracture involving more than 50% of orbital floor
Persistent symptomatic diplopia within 30
Enophthalmos more than 2mm
Hypoglobus
Increasing infraorbital anaesthesia
Otherwise, patients can be observed if they have minimal diplopia, restriction and/or enophthalmos.
can wait 2 weeks;
- # involving 50% orbital floor
- progressive infraorbital anaesthesia
- persistent symptomatic diplopia
Which of the following prisms will help a 3 year old child with a congenital nystagmus with an associated left head turn?
RE base in prism; LE base out prism
A left head turn is performed to get a right gaze, which indicates a right null zone to dampen a left jerk nystagmus.
the null zone is the direction of gaze where eye movements are slowest and most stable
A simple way to think about this is to establish
Direction of jerk
The head turn is always in the same direction as the jerk, and the gaze direction is always away from the jerk direction (the gaze direction is to place the eyes in the “null zone”). Think of this as “looking away” from the direction of the jerk nystagmus to prevent it.
Think of the direction of the BASE of prism as a way to “push” the eyes back into place. So if someone has a head turn to the left and is looking to their right, you want bases to point towards the left so that their gaze is “pushed” to align with their head position.
infantile esotropia
Features of infantile esotropia:
Typically present by 6 months of age but not usually manifest at birth
May have equal vision in cases of cross-fixation or alternate fixation or may have amblyopia (fixation preference can be observed)
Angle of deviation is usually fairly large (typically more than 30 prism dioptres)
Versions and ductions should be normal, but abduction may be difficult to assess due to cross-fixation but can be evaluated by doll’s head manoeuvre, or by observation after patching either eye
Can be accompanied by latent or manifest latent nystagmus (usually horizontal)
Typically low hyperopia on cycloplegic refraction (+1.00D to +2.00D), hyperopia greater than +2.00D should prompt spectacle correction (note if degree of esotropia reduces with glasses there may be an accommodative component)
Can be associated with inferior oblique overaction
Can be associated wtih dissociated vertical deviation (DVD)
Asymmetry of optokinetic nystagmus (OKN) due to disruption of BSV:
Normal response when OKN stripes moves temporal to nasal but abnormal response (no response or irregular eye movements) when stripes move nasal to temporal.
Which of the following describes the phenomenon whereby nystagmus is more pronounced when gaze is directed toward the side of the fast-beating component?
Alexander’s law
Nystagmus is more pronounced when gaze is directed toward the side of the fast-beating component. If there is right jerk nystagmus, it worsens on right gaze and improves on left gaze. Therefore, patients then to turn their head to the same size as the fast beating nystagmus, so that they’re looking at the side which improves their nystagmus.
Hering’s law of equal innervation
Yoke muscles receive equal innervational input when they are activated.
Dissociated vertical deviation (DVD) violates this law as there is slow upward drifting of one eye when the other eye fixates.
Sherrington’s law of reciprocal innervation
Contraction of a muscle is accompanied by a decrease in contraction of its antagonist.
Duane’s violates this law as there is co-contraction of MR and LR.
A 29 year old female who has undergone a bilateral upper and lower blepharoplasty 1 day ago has presented in the emergency department with severe vision loss in her right eye over the past 2 hours. Her visual acuity was R6/60 L6/9 with intraocular pressures of R35 L12. There was also RAPD in her right eye. Which of the following is the best immediate management?
oculoplastics and orbits
reopening of surgical wounds
The majority of cases of post-blepharoplasty vision loss are associated with lower eyelid blepharoplasty. The technique for lower eyelid blepharoplasty involves opening the lower eyelid septum and removing/repositioning the lower eyelid fat pads. Working with vascular fat raises the risk of post-operative bleeding. Working retro-septal means that acute post-operative bleeding can be trapped in the orbital compartment with resultant compressive optic neuropathy.
Another possible cause of vision loss after lower blepharoplasty could be due to constriction of retrobulbar blood vessels in response to epinephrine in the local anesthetic.
A 4 year old boy was seen to have absent abduction in both eyes. Further general examination of the child revealed somewhat fixed facial expressions. Which of the following is the most likely diagnosis?
Mobius syndrome
Wrong answers:
Goldenhar AKA Oculo-Auriculo-Vertebral syndrome.
part of the spectrum of hemifacial microsomia
accessory auricle, limbal dermoid, hypoplasia of face
vertebral anomalyc
corneal hyposthesia
Duane syndrome
iris and upper eyelid coloboma.
Abduction is affected in Duane type 1 but CN 7 is unaffected
Congenital fibrosis of the EOM (CFEOM) is due to abnormal development of oculomotor nuclei. There are several subtypes. Characterised by restrictive ophthalmoplegia and ptosis; inability to elevate globes; exotropia.
Mobius syndrome
CN 6 and 7 palsies
Marked facies
Clubbed feet
Chest wall defects
Deformed tongue
May also have impaired adduction
A 2 year old child is not tolerating 2 hours of patching for left amblyopia (logMar 0.5), which of the following is the most likely alterna
Atropine 0.1% to RE during weekends
This child has moderate amblyopia (6/12 to 6/30) of his left eye.
The Pediatric Eye Disease Investigator Group (PEDIG) study has shown that for moderate amblyopia, atropine penalisation of the sound eye is equally as effective as patching.
Furthermore, weekend only versus daily atropine penalisation showed equal improvement of moderate and severe amblyopia.
Optical penalisation using excessive plus lens (+13.00) or diffusing filters for the sound eye is also an option but patients must be closely monitored to ensure proper use of glasses (no peeking). A weak plus or minus lens is not effective, as a child’s ability to accommdate is significant. A plano lens will certainly not work.
Reference(s)/further reading:
Repka, M. X., Kraker, R. T., Beck, R. W., Holmes, J. M., Cotter, S. A., Birch, E. E., Astle, W. F., Chandler, D. L., Felius, J., Arnold, R. W., Tien, D. R., & Glaser, S. R. (2008). A randomized trial of atropine vs patching for treatment of moderate amblyopia: follow-up at age 10 years. Arch Ophthalmol, 126(8), 1039-1044. https://doi.org/10.1001/archopht.126.8.1039
A 6 month old child is referred to you with enlarged cornea in his right eye. Examination under general anaesthesia revealed an IOP of 40mmHg in his right eye, and 14 in his left eye. On examination he has a clear cornea, with a horizontal corneal diameter of 14.2mm in the right eye. Mx.
Goniotomy
Medical management is less effective than surgical management in primary congenital glaucoma. Goniotomy is typically performed for patients with a clear cornea. Otherwise, a trabeculotomy may be considered.
The long-term prognosis for PCG patients is best when they are asymptomatic at birth, and when their symptoms commence between 3 and 12 months of age. Around 80% of them will be controlled with angle surgery. These children may still go on to develop long-term sequelae which may impair visual functioning. The most common sequelae is amblyopia.
Primary congenital glaucoma
Rare syndrome of angle dysgenesis causing reduced aqueous outflow
Bilateral in 70%
M>F
Usually sporadic (10% familial). GLC3 A-D genes implicated
Usually diagnosed within the first year
Termed primary juvenile glaucoma if diagnosed >5 years
Associated with CYP1B1 and MYOC
Secondary glaucoma
Anterior segment dysgenesis
Axenfeld-Rieger
Peters anomaly
Aniridia
Aphakic or lens related
Persistent foetal vasculature
ROP
Tumour related e.g. juvenile xanthogranuloma, Rb or systemic e.g. leukaemia
Phakomatoses e.g. Sturge-Weber and NF-1
Connective tissue disease e.g. Marfan’s, homocystinuria
Uveitis
Clinical features
Tearing
Photophobia
Blepharospasm
Corneal oedema
Buphthalmos
Increased horizontal corneal diameter (>12mm) and longer axial length (>17mm AL and >10.5mm corneal diameter are excessive for a newborn)
Haab striae
Horizontal or concentric to the limbus (compared with the vertical or oblique orientation of descemet’s tear caused by birth trauma which typically affects L eye more than R)
Increased pachymetry
Gonioscopy: deep AC, high and flat iris insertion, peripheral iris hypoplasia, absent angle recess
Management
Medical treatment is often less effective
Brimonidine causes CNS depression, and is contraindicated in children <2
Systemic carbonic anhydrase inhibitors causes lethargy, anorexia and stunted growth so should only be used in short periods
Surgical
Goniotomy
Trabeculotomy/canaloplasty
Aqueous shunts (tubes)
Trabeculectomy
Cycloablation
*Surgical management depends on corneal clarity. If clear cornea, consider goniotomy. If opaque cornea, consider trabeculotomy”
Which gene mutation is implicated in PXF?
LOXL1
Pseudoexfoliation syndrome (PXF) is a secondary cause of glaucoma. A single nucleotide polymorphism of the lysyl oxidase-like 1 (LOXL1) gene (Chr 5q24.1) have been found to be associated with the condition.
It may be useful to remember some of the gene associations for various types of glaucoma/associated conditions:
PXF: LOXL1 Axenfeld-Rieger syndrome: FOXC1 or PITX2 Juvenile-onset glaucoma: GLC1A (aka MYOC, also known as TM-inducible glucocorticoid response (TIGR) gene) or CYP1B1 Congenital glaucoma: CYP1B1 Normal tension glaucoma: OPT
FBN1 is the odd one out of the options. Mutations of FBN1 are associated with Marfan’s syndrome.
A 2 month old child was seen in the paediatrics clinic. You not a limited abduction in his right eye. The child is orthotropic with no abnormal eye movements otherwise. Which of the following options would prompt you to think congenital 6th nerve palsy rather than Duane’s syndrome?
It is more common for a 6th nerve to cause esotropia in primary position.
Wrong answers:
Raised ICP doesn’t help in ruling in either because congenital 6th’s are usually benign in nature.
Globe retraction and fissure narrowing on adduction are characteristics of Duane.
Congenital 6th CN palsy
Congenital forms are usually benign, caused by raised ICP associated with birth process. Non-resolving or new 6th CN palsy in >3 month should prompt investigations as 1/3rd of cases are caused by intracranial lesions; most cases are thought to be post-viral
Duane’s syndrome
Aberrant co-innervation of LR and MR by 3rd CN which may be associated with 6th CN nucleus hypoplasia Most common type 1 > 2 > 3 F>M Bilateral in 20%
Clinical features
Attempted adduction will lead to
Retraction of globe
Reduction of palpebral aperture
\+/- up or downshift
Systemic associations present in 30%
Deafness
Goldenhar syndrome
Klippel-Feil
Wilderwank
Type 1
85% Primary position is eso or ortho Reduced abduction Mild globe retraction
Type 2
14% Primary position is exo or ortho Reduced adduction Severe globe retraction
Type 3
1% Eso or ortho Reduced abduction and adduction Moderate globe retraction
Memory aids: Type involves 1 D - abDuction; type 2 involves 2 Ds - aDDuction; type 3 involves 3Ds - aBduction and aDDuction.
capillary haemangioma
Capillary haemangioma more often occurs AFTER birth but usually within the initial 6 months.
It can indeed enlarge or change colour with crying, and can cause amblyopia if large.
One of the treatment options for capillary haemangioma is beta-blockers such as propanolol.
A 3 day old infant has bilateral hyperaemia and chemosis, along with significant yellow discharge. What is the most likely appropriate management?
IV Ceftriaxone
It is likely that the cause of this is Neisseria gonorrhoea conjunctivitis. Ophthalmia neonatorum caused by N. gonorrhoea:
Typically presents in the first 2-5 days of life
Associated with marked chemosis, significant discharge and babies are at risk of corneal perforation
To investigate this, prewet swab or conjunctival scrapings should be taken for gram staining and culture using Thayer-Martin. Chlamydia should also be tested using Giemsa staining and chlamydial culture as there is often maternal co-infection
Treatment: (1) single dose of IV/IM cefotaxime/ceftriaxone (2) frequent saline lavage of purulent discharge (3) Referral of mother and partner to GUM clinic
The other options are unlikely correct as they were treatment for other causes:
Stop offending agent - treatment for chemical conjunctivitis: self-limiting inflammation in the first 24 hours due to silver nitrate
IV aciclovir - treatment for herpes simplex virus conjunctivitis: Usually presents later, often 5–14 days after birth. Possible ocular manifestions: eyelid vesicles and erythema, conjunctivitis, keratitis, anterior uveitis.
Oral erythromycin (for infants with no pneumonia systemic erythromycin can be delayed while awaiting test results due to risk of infantile hypertrophic pyloric stenosis) - treatment for chlamydia conjunctivitis: Usually presents later, often 5–14 days after birth. Minimal-moderate discharge, possible pseudomembrane formation.
A 3 month old baby was referred to you as his mom was concerned that the baby was “tearing a lot” in the right eye. On examination, you do note that the baby was tearing abundantly. The baby had clear corneas and the corneas were 10.5mm. The child was not photophobic. Periocular examination was also performed and you have not found anything unusual. The baby was otherwise feeding fine. The baby also had stable observations. What is the best management?
Crigler massage
This child most likely has nasolacrimal duct obstruction. As the child has no red flag features, it is safe to perform Crigler massage and observe for now.
Wrong answers:
Topical antibiotics would not be appropriate as there is no sign of infection. This would be recommended if a dacryocystocoele is present as it carries a high risk of infection.
IOP check under anaesthesia would be inappropriate as the patient does not have many typical features of congenital glaucoma which are blepharospasm, photophobia and megalocornea. You would definitely not attempt gonioscopy on a 3 month old.
Nasolacrimal duct obstruction
Most likely caused by imperforate mucus membrane at the Valve of Hasner
90% spontaneous resolution within 1y
If not, probing + irrigation resolve 90%
Congenital dacryocystocele may form secondary to distal blockage of nasolacrimal duct obstruction
This is commonly seen as a bluish swelling inferior to medial canthus. Differentials: encephalocoele, dermoid cyst and capillary haemangioma. Encephalocoele and dermoid cyst occur superior to medial canthus.
Topical antibiotic is usually used as there is high risk of infection with this condition. It is recommended that non-resolution after 1-2 weeks should warrant surgical treatment.
Management of nasolacrimal duct obstruction usually starts from least to most invasive
Least invasive: Observation, Crigler massage (digital massage of the lacrimal sac) Minimally invasive: Probing, irrigation Moderately invasive: Inferior turbinate infracture, balloon dacryoplasty, intubation with silicone stents Very invasive: DCR or cDCR (for imperforate or obliterated canaliculi)
Red flag features include, respiratory distress, signs of cellulitis and poor feeding.
describes a condition that exhibits X-linked dominant inheritance?
Chorioretinal lacunae, infantile spasms, and agenesis of the corpus callosum are features describing Aicardi syndrome, which is thought to be X-linked dominant mutation but a causal gene has not been identified.
Cornea verticillata and small, dark red spots on the skin called angiokeratomas are found in Fabry’s disease. There is deficiency of α-galactoside A resulting in globotriaosylceramide in lysosome across the entire body. Features include cornea verticillata, cataracts, conjunctival and retinal telangiectasia, peripheral neuropathy with painful “Fabry crises”, renal failure, angiokeratomas, lymphoedema. It is an X-linked recessive disorder.
Bilateral disorganised retinal tissue development with fibrovascular changes describes Norrie’s disease which has an X-linked recessive inheritance.
Early posterior sub-capsular cataract and delay in releasing grip after a handshake describes myotonic dystrophy. It is inherited in an autosomal dominant manner.
Reference(s)/further reading:
Denniston, Alastair K. O., and Philip I. Murray (eds) (2018). Oxford Handbook of Ophthalmology (4th ed). Oxford Medical Handbooks (Oxford; online edn, Oxford Academic, 1 Mar. 2018), https://doi.org/10.1093/med/9780198804550.001.0001, accessed 18 July 2024.
Shemesh A, Margolin E. Kearns-Sayre Syndrome. [Updated 2023 Jul 17]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK482341/
correct in regards to congenital cataracts?
IOL implantation has not been shown to confer protection against post-operative glaucoma.
When it comes to congenital cataract management, two notable large cohort studies are IOLunder2 and Infant Aphakia Treatment Studies (IATS). These studies provide evidence that:
Post-operative vision for infants who receive concurrent IOL implantation vs aphakia plus contact lens is similar
IOL implantation does not give protection against post-operative glaucoma
Visual axis opacification is more common and occurs earlier with use of IOLs in children under the age of two versus aphakia
Unilateral cataracts is more amblyogenic compared to bilateral cataracts. The latent period for unilateral cataract is 6-8 weeks while for bilateral cataract is 8-12 weeks. Operating after these times would result in a much poorer outcome.
All wounds should be sutured with absorbable sutures such as 10/0 vicryl to prevent wound leak.
Reference(s)/further reading:
Freedman, S. F., Beck, A. D., Nizam, A., Vanderveen, D. K., Plager, D. A., Morrison, D. G., Drews-Botsch, C. D., Lambert, S. R., & Group, I. A. T. S. (2021). Glaucoma-Related Adverse Events at 10 Years in the Infant Aphakia Treatment Study: A Secondary Analysis of a Randomized Clinical Trial. JAMA Ophthalmology, 139(2), 165-173. https://doi.org/10.1001/jamaophthalmol.2020.5664
Freedman, S. F., Lynn, M. J., Beck, A. D., Bothun, E. D., Örge, F. H., Lambert, S. R., & Group, f. t. I. A. T. S. (2015). Glaucoma-Related Adverse Events in the First 5 Years After Unilateral Cataract Removal in the Infant Aphakia Treatment Study. JAMA Ophthalmology, 133(8), 907-914. https://doi.org/10.1001/jamaophthalmol.2015.1329
Solebo, A. L., Cumberland, P., & Rahi, J. S. (2018). 5-year outcomes after primary intraocular lens implantation in children aged 2 years or younger with congenital or infantile cataract: findings from the IoLunder2 prospective inception cohort study. The Lancet Child & Adolescent Health, 2(12), 863-871. https://doi.org/https://doi.org/10.1016/S2352-4642(18)30317-1
A 16y was referred by a dermatologist for a one week history of bilateral red itchy eyes. On examination, the patient had widespread chronic eczematous changes to his eyelids. His cornea had widespread punctate staining and his conjunctiva was moderately injected. There were no ulcers present. The patient has a medical history of hay fever, eczema and multiple other allergies. The patient is currently taking emollients, nasal sprays, chlorphenamine, steroid cream and dupilumab. The patient reported not having had any eye issues in the past. Which of the following is the most likely cause of his condition?
A similar question was asked in a FRCOphth Part 2 exam.
This question was designed to be vague to test your knowledge of adverse drug reactions. Dupilumab is a monoclonal antibody which inhibits IL-4 and IL-13. It is known to cause conjunctivitis which may present in a wide spectrum. Treatment is usually straightforward with lubricants but occasionally corticosteroid eyedrops is needed.
The other options are less likely as the patient has never had eye issues in the past. Seasonal and vernal keratoconjunctivitis would likely have presented earlier in life.
Atopic keratoconjunctivitis usually presents in the 25-30y age group.
Seasonal/perennial allergic conjunctivitis
Common
Type 1 hypersensitivity
Seasonal triggers (grass, pollen, animal dander, dust mite)
Clinical features
Itch, watery discharge, history of atopy
Chemises, lid oedema, papillae, mild diffuse injection
Investigations
Consider conjunctival swabs, skin prick testing, serum IgE, radioallergosorbent test (RAST)
Treatment
Eliminate allergen
Mild
Artificial tears (to dilute allergen)
Moderate
Mast cell stabiliser (sodium cromoglicate)
Topical antihistamine
Severe
Mild topical steroid
Vernal keratoconjunctivitis
Allergic conjunctivitis typically occurring during spring or fall
5-15y
M>F before puberty
Uncommon
Clinical features
Giant (cobblestone) papillary conjunctivitis on superior tarsus
Horner-Tantras dots (jelly-like limbal nodules comprising degenerated eosinophils)
Shield ulcers (corneal epithelial defect in the upper cornea)
Pseudogerontoxon (lesion resembling arcue seniles)
80% have atopic history
Type 1 and 4 hypersensitivity
Treatment
Mast cell stabiliser e.g. sodium cromoglicate
+/- Steroid
+/- Ciclosporin
+/- Mucolytic e.g. acetylcysteine
Superficial lamellar keratectomy to remove plaques/shield ulcer
Atopic keratoconjunctivitis
Allergic conjunctivitis associated atopic element, commonly with eczema
25-30y
Type 1 and 4 hypersensitivity but with higher type 1 than vernal disease
Lid disease and eczema is a important feature of the disease
Rare
Clinical features
Itch, redness, photophobia +/- blurred vision
Atopy
Lid eczema
Anterior blepharitis
May develop progressive conjunctival scarring and fornix shortening
Keratitis - more prone to herpetic eye disease and microbial keratitis
shield ulcers, pannus, corneal vascularisation
Associated with keratoconus and cataract (atopic type i.e. anterior subcapsular)
Treatment
Mast cell stabiliser e.g. sodium cromoglicate
+/- Steroid
+/- Ciclosporin
+/- Mucolytic e.g. acetylcysteine
More prone to herpetic eye disease and microbial keratitis
Control lid disease with chloramphenicol, doxycycline
Eczema
Superficial lamellar keratectomy to remove plaques
X-linked recessive inheritance?
Bilateral disorganised retinal tissue development with fibrovascular changes describes Norrie’s disease which has an X-linked recessive inheritance.
Bilateral progressive and constant ptosis with decreased motility of eye muscles and pigmentary retinopathy likely describes Kearns-Sayre syndrome,which is a triad of onset before 20 years old, chronic progressive external ophthalmoplegia and pigmentary retinopathy. It has variable inheritance; mitochondrial, autosomal recessive or autosomal dominant.
Early posterior sub-capsular cataract and delay in releasing grip after a handshake describes myotonic dystrophy. It is inherited in an autosomal dominant manner.
Over-decussation of fibres at optic chiasm is a phenomenon found in patients with ocular albinism or oculocutaneous albinism but the hypopigmentation of skin and hair points more towards oculocutaneous albinism. Ocular albinism is inherited in an X-linked recessive manner and oculocutaneous albinism is inherited in an autosomal recessive manner.
Reference(s)/further reading:
Denniston, Alastair K. O., and Philip I. Murray (eds) (2018). Oxford Handbook of Ophthalmology (4th ed). Oxford Medical Handbooks (Oxford; online edn, Oxford Academic, 1 Mar. 2018), https://doi.org/10.1093/med/9780198804550.001.0001, accessed 18 July 2024.
Shemesh A, Margolin E. Kearns-Sayre Syndrome. [Updated 2023 Jul 17]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK482341/
UK Screening of Retinopathy of Prematurity Guideline 2024
ROP guidelines are constantly changing, if any doubts please email ophthobank@gmail.com for clarification.
Anterior zone 2 stage 2 without plus should be screened 2 weekly.
UK Screening of Retinopathy of Prematurity Guideline 2024
Screening
Babies born <31w, or <1501g MUST screen in between 31-37w, or 4 weeks post-natal (whichever later)
Babies born 31-32w, SHOULD screen in between 36-37w, or 4 weeks (whichever sooner)
Treat
Zone 1 any stage with plus
Zone 1 stage 3 without plus
Zone 2 stage 2 or 3 with plus
Closely monitor and consider treating
Zone 1 stage 1 or 2 without plus
Zone 2 stage 3 without plus
Frequency of follow up after first ROP screening
Weekly if:
Zone 1 or
Posterior zone 2 or
Any plus or pre plus or
Any stage 3
2 weekly if:
Vessels end in mid or anterior Zone 2 or Zone 3, and
There is no plus or pre-plus, and
There is no ROP or stage 1 or 2 ROP
Further reading:
Royal College of Paediatrics and Child Health. UK Screening of Retinopathy of Prematurity Guideline, March 2022, Revised October 2024. UK screening of retinopathy of prematurity guideline. https://www.rcpch.ac.uk/sites/default/files/2024-10/rop-screening-guideline-full-2022_updated-2024.pdf
retinopathy of prematurity stages?
what investigations should be carried out in a 2 year old with a newly diagnosed aniridia?
abdomina USS
Aniridia
PAX6 (chromosome 11) mutation in hereditary or sporadic forms
~20% sporadic and associated with increased risk of Wilms tumour
50-75% aniridic patients eventually develop glaucoma, usually CACG
~80% of cases of aniridia are familial (85% AD inheritance), and most have no systemic manifestations.
A 4y child with limited left abduction and upshoot on adduction was seen in the paediatrics clinic. You note a face turn towards the left. Orthoptics have noted a deviation of 40 prism diopters. Which of the following is the best management plan?
To put it simply, this patient is esotropic as a result of limited abduction in her left eye. She turns her face to the left to create a right gaze for binocular alignment.
Surgery is usually performed on patients with Duane’s only to improve binocular single vision and head position. Essentially, recessions lengthen muscles and resection shortens muscles.
Surgery options are as follows:
Usually uni/bilateral MR recession for esotropia
Uni/bilateral LR recession for exotropia
Avoid LR resection, as this increases retraction
As a general rule for type 1 Duane’s, medial rectus recession is performed on the involved side. Bilateral medial recession is performed if esodeviation is >20 prism diopters.
Duane’s syndrome
Aberrant co-innervation of LR and MR by 3rd CN which may be associated with 6th CN nucleus hypoplasia
Most common type 1 > 2 > 3
F>M
Bilateral in 20%
Clinical features
Attempted adduction will lead to
Retraction of globe
Reduction of palpebral aperture
+/- up or downshift
Systemic associations present in 30%
Deafness
Goldenhar syndrome
Klippel-Feil
Wilderwank
Type 1
85%
Primary position is eso or ortho
Reduced abduction
Mild globe retraction
Type 2
14%
Primary position is exo or ortho
Reduced adduction
Severe globe retraction
Type 3
1%
Eso or ortho
Reduced abduction and adduction
Moderate globe retraction
Memory aids: Type involves 1 D - abDuction; type 2 involves 2 Ds - aDDuction; type 3 involves 3Ds - aBduction and aDDuction.
Treatment
Treat refractive error: amblyopia usually due to refractive error rather than diplopia
Prisms for comfort and to improve head position
Surgery to improve binocular single vision and head position
Usually uni/bilateral MR recession for esotropia
Uni/bilateral LR recession for exotropia
Avoid LR resection, as this increases retraction
A 5 year old boy has intermittent exotropia which is reported to have started in the last year and on examination, there is a deviation of 40PD at distance and 25PD at near. After monocular occlusion for an hour, the deviation measures 40PD at distance and 35PD at near. What is the most likely diagnosis?
Intermittent exotropia can be divided into exotropia present:
Distance fixation only
Near fixation only (near exotropia)
Exotropia present at distance fixation only can be further divided into:
True divergence excess XT: When exodeviation at distance is larger than deviation at near by >10PD
Simulated divergence excess XT (high AC/A ratio): Exodeviation at distance is larger than deviation at near by >10PD but this difference diminishes to <10PD after disruption of near binocular vision by an hour of monocular occlusion or with +3.0 D lenses or pharmacological cycloplegia
This child has exodeviation larger at distance than near by 15PD, but after an hour’s worth of monocular occlusion, the difference reduced to 5PD, so this is likely simulated divergence excess exotropia.
Infantile exotropia would have started <6 months of age and would be constant. Near exotropia would have exodeviation worse at near than distance.
