Ophthalmology Flashcards
Features of Hurler’s syndrome
Coarse face Thickened skin and lips Frontal bossing Hypertrichosis Claw hands Hepatosplenomegaly Absent red reflex
Diagnosis of Hurler’s syndrome
White cell/fibroblast culture
High levels of heparin sulphate and dermatan in the urine
Conditions associated with colobomata
Trisomy 13
Goldenhar syndrome
Rubenstein-Taybi syndrome
CHARGE syndrome
Conditions associated with retinitis pigmentosa
Hurler's syndrome Abetalipoproteinaemia Cystinosis Laurence-Moon-Biedl Post infectious Refsum's disease
Features of abetalipoproteinaemia
Steatorrhoea Progressive ataxia Neuromuscular degeneration Retinitis pigmentosa Acanthocytes
Features of Laurence-Moon-Biedl
Obesity Learning difficulties Polydactyly Hypogonadism Retinitis pigmentosa
Features of trisomy 18
= Edward's syndrome Cataracts Micocephaly with prominent occiput Micrognathia Cleft lip Overlapping fingers Rocker bottom feet
Which congenital disease causes periventricular calcification?
Congenital CMV
Features of congenital CMV
Periventricular calcification Jaundice Chorioretinitis Microcephaly Deafnes Purpura Pneumonitis
Diagnosis of congenital CMV
Serum IgM for CMV
Urine for CMV
Conditions associated with corneal clouding
Hurler’s syndrome
Congenital Rubella
Cystinosis
Corneal abnormality in cystinosis
Needle shaped polychromatic cystine crystals in the cornea
Features of Lowe syndrome
= Oculo-cerebro-renal syndrome
Oculo: bilateral cataracts, glaucoma
Cerebro: learning difficulties, hypotonia
Renal: Fanconi syndrome
Features of Rubinstein Taybi syndrome
Short, broad toes Poor growth Learning difficulties Microcephaly Maxillary and mandibular hypoplasia Beaked nose
Cause of Rubinstein Taybi syndrome
Microdeletion of chromosome 16p13
Diseases with a cherry red spot
Niemann-Pick
Farber’s
Tay Sach’s
Diagnosis of galactosaemia
Red cell enzyme levels
Features of galactosaemia
Oil drop shaped cataracts Neonatal conjugated jaundice Proximal RTA Hepatomegaly Hypoglycaemia
Cause of sunflower cataract
Wilson’s disease
Causes of optic atrophy
Vitamin B12 deficiency Post traumatic Leber's optic atrophy Optic nerve compression Retinal artery thrombosis
Disease causing Birkbeck granules
Langerhans’ cell histiocytosis
Features of Crouzon’s syndrome
Craniosynostosis Proptosis Maxillary hypoplasia Conductive hearing loss Optic atrophy Parrot like nose
Conditions associated with glaucoma
Chronic uveitis
Acute uveitis
Sturge-Weber syndrome
Trisomy 21
Features of Smith-Lemli-Opitz
Microcephaly Seizures Typical facies - ptosis, broad upturned nose, micrognathia Syndactyly of 2nd and 3rd toes Clenched hand Cryptorchidism Hypospadias
Features of myotonic dystrophy
Hypotonia Reduced foetal movements Polyhydramnios Myotonia is worsened by the cold Learning difficulties Myopathic facies Ptosis Cataracts Frontal balding
Features of septo optic dysplasia
Optic nerve hypoplasia
Hypopituitarism
Absence of the septum pellucidum
