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Eye findings in some inherited disorders

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medmaestro's version from 2015-10-13 04:39

Section

Eyelid

 

Question Answer
Epicanthus(Epicanthal fold, epicanthus, or simply eye fold are names for a skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. Other names for this trait include plica palpebronasalis and palpebronasal fold.)Turner's syndrome (XO), trisomy 18 (Edward's syndrome), Down's syndrome, deletions 13q, 18, 4p, 5p
PtosisKearns Sayre disease, Myotonic dystrophy, Turner's syndrome (XO), 13q deletion
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Conjunctiva

 

Question Answer
TelangiectasiaOsler Weber Rendu syndrome, Louis Bar syndrome, Sturge Weber syndrome, Fabry's disease, fucosidosis
PingueculasGaucher's disease
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Cornea
Question Answer
Kayser-Fleischer ringWilson's disease
Cornea verticillataFabry's disease
Corneal crystalsCystinosis
Corneal cloudingMucolipidoses, mucopolysaccharidoses, Lowe's syndrome, X-linked ichthyosis, tyrosinaemia, Tangier disease, trisomy 18
Thickened corneal nervesMultiple endocrine neoplasia type IIb(MEN IIb)
KeratoconusDown's syndrome
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Iris

 

Question Answer
Iris tremor (iridodonesis)Marfan's syndrome
Lisch noduleNeurofibromatosis type 1
Iris transilluminationAlbinism
Aniridia (absent iris)Wilm's tumour/11p deletion
Coloboma (cat eye)Trisomy 22
Brushfield spotsDown's syndrome
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Lens
Question Answer
Lens dislocationMarfan's syndrome, homocystinuria, ectopia lentis
LenticonusAlport's syndrome
Cataract, (infantile)Galactosaemia, galactokinase deficiency, Down's syndrome, Lowe's syndrome
Cataract,( childhood)Skeletal, chromosomal, and dermatological syndromes
Cataract, (adult)Myotonic dystrophy, Wilson's disease, neurofibromatosis type 2, Fabry's disease, mannosidosis
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Retina
Question Answer
Retinal angiomavon Hippel Lindau disease, Sturge Weber syndrome
Retinal phakomaTuberous sclerosis, neurofibromatosis type 1
Angioid streaksPseudoxanthoma elasticum
Retinal dysplasiaNorrie's disease, Incontinentia pigmenti
Macular abnormalityBatten's disease, Farber's disease, Gaucher's disease
Macular cherry red spotSialidosis, Niemann Pick disease, Tay Sachs disease
Pigmentary retinopathyUsher's disease, mitochondrial myopathy (some), Refsum's disease, Kearns Sayre disease, Abetalipoproteinaemia, Hurler's syndrome, Laurence Moon Biedl syndrome
Pigmented patchesGardner's syndrome
Gyrate atrophyHyperornithinaemia
Retinoblastoma13q deletion
Vascular anomalyFucosidosis
CrystalsCystinosis, oxalosis, Alport's syndrome
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Sclera
Question Answer
Blue scleraOsteogenesis imperfecta
Thinned scleraEhlers Danlos syndrome
Pigmented scleraAlkaptonuria
GlaucomaNeurofibromatosis type 1, Sturge- Weber syndrome
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