Ophthalmology

Question 1

Features of Hurler’s syndrome

Answer 1

Coarse face
Thickened skin and lips
Frontal bossing
Hypertrichosis
Claw hands
Hepatosplenomegaly
Absent red reflex

Question 2

Diagnosis of Hurler’s syndrome

Answer 2

White cell/fibroblast culture

High levels of heparin sulphate and dermatan in the urine

Question 3

Conditions associated with colobomata

Answer 3

Trisomy 13
Goldenhar syndrome
Rubenstein-Taybi syndrome
CHARGE syndrome

Question 4

Conditions associated with retinitis pigmentosa

Answer 4

Hurler's syndrome
Abetalipoproteinaemia
Cystinosis
Laurence-Moon-Biedl
Post infectious
Refsum's disease

Question 5

Features of abetalipoproteinaemia

Answer 5

Steatorrhoea
Progressive ataxia
Neuromuscular degeneration
Retinitis pigmentosa
Acanthocytes

Question 6

Features of Laurence-Moon-Biedl

Answer 6

Obesity
Learning difficulties
Polydactyly
Hypogonadism
Retinitis pigmentosa

Question 7

Features of trisomy 18

Answer 7

= Edward's syndrome
Cataracts
Micocephaly with prominent occiput
Micrognathia
Cleft lip
Overlapping fingers
Rocker bottom feet

Question 8

Which congenital disease causes periventricular calcification?

Answer 8

Congenital CMV

Question 9

Features of congenital CMV

Answer 9

Periventricular calcification
Jaundice
Chorioretinitis
Microcephaly
Deafnes
Purpura
Pneumonitis

Question 10

Diagnosis of congenital CMV

Answer 10

Serum IgM for CMV

Urine for CMV

Question 11

Conditions associated with corneal clouding

Answer 11

Hurler’s syndrome
Congenital Rubella
Cystinosis

Question 12

Corneal abnormality in cystinosis

Answer 12

Needle shaped polychromatic cystine crystals in the cornea

Question 13

Features of Lowe syndrome

Answer 13

= Oculo-cerebro-renal syndrome
Oculo: bilateral cataracts, glaucoma
Cerebro: learning difficulties, hypotonia
Renal: Fanconi syndrome

Question 14

Features of Rubinstein Taybi syndrome

Answer 14

Short, broad toes
Poor growth
Learning difficulties
Microcephaly
Maxillary and mandibular hypoplasia
Beaked nose

Question 15

Cause of Rubinstein Taybi syndrome

Answer 15

Microdeletion of chromosome 16p13

Question 16

Diseases with a cherry red spot

Answer 16

Niemann-Pick
Farber’s
Tay Sach’s

Question 17

Diagnosis of galactosaemia

Answer 17

Red cell enzyme levels

Question 18

Features of galactosaemia

Answer 18

Oil drop shaped cataracts
Neonatal conjugated jaundice
Proximal RTA
Hepatomegaly
Hypoglycaemia

Question 19

Cause of sunflower cataract

Answer 19

Wilson’s disease

Question 20

Causes of optic atrophy

Answer 20

Vitamin B12 deficiency
Post traumatic
Leber's optic atrophy
Optic nerve compression
Retinal artery thrombosis

Question 21

Disease causing Birkbeck granules

Answer 21

Langerhans’ cell histiocytosis

Question 22

Features of Crouzon’s syndrome

Answer 22

Craniosynostosis
Proptosis
Maxillary hypoplasia
Conductive hearing loss
Optic atrophy
Parrot like nose

Question 23

Conditions associated with glaucoma

Answer 23

Chronic uveitis
Acute uveitis
Sturge-Weber syndrome
Trisomy 21

Question 24

Features of Smith-Lemli-Opitz

Answer 24

Microcephaly
Seizures
Typical facies - ptosis, broad upturned nose, micrognathia
Syndactyly of 2nd and 3rd toes
Clenched hand
Cryptorchidism
Hypospadias

Question 25

Features of myotonic dystrophy

Answer 25

Hypotonia
Reduced foetal movements
Polyhydramnios
Myotonia is worsened by the cold
Learning difficulties
Myopathic facies
Ptosis
Cataracts
Frontal balding

Question 26

Features of septo optic dysplasia

Answer 26

Optic nerve hypoplasia
Hypopituitarism
Absence of the septum pellucidum