Типы наследования раздичной офтальмопатологии

Коспилировал в 2015м г. список болезней по типу наследования. Полезно при подготовке к офтальмоэкзаменам. Особенно MCQs типа FICO/FEBO и аналогов.

Sporadic:

Microcornea

Cornea plana (also AD, AR)

Sclerocornea 50% (also AD 25%, AR 25%)

Corneal degenerations

Peter's Anomaly

Goldenhar's Syndrome (also AD)

Posterior Keratoconus

Retinoblastoma (Mutations in RB1 gene sporadic in 60%, also AD in 40%)

Posterior polar cataract (also AD)

Anterior polar cataract (also AD)

Retinitis pigmentosa (50% sporadic, also AD,AR,SLR)

Non-hereditary congenital syndromes:

Sturge-Weber Sm (neurocutaneous sm)

Wyburn Manson Sm (retinoencephalofacial angiomatosis)

PHPV (congenital nonhereditary ocular malformation - PHPV, microphthalmia, ectopia lentis, prominent radial iris vessels, elongated ciliary processes; unilateral; progressive cataract, prone to angle closure)

Coat's Disease

Optic nerve hypoplasia (except septo-optic dysplasia - De Morsier sm, which is mostly sporadic, then - AR, rarely - AD)

Moebius sm (congenital lack of facial expression and eye abductions - underdeveloped or absent VII and VI CN)

Duane's sm (90% sporadic, 10% - AD/AR)

Autosomal Dominant (AD):

Retinoblastoma (AD with incomplete penetrance - 90%; also - sporadic)

Keratoconus (10%, rest - idiopathic)

Simple megalocornea (also SLR for anterior megalohthalmos)

Cornea plana (also AR, sporadic)

Sclerocornea (50% sporadic, 25/25% AD/AR)

Microcornea (also AR, sporadic)

Map-dot-fingerprint dystrophy (all epithelial corneal dystrophies)

Reis-Buckler dystrophy (all epithelial corneal dystrophies)

Meesmann's dystrophy (all epithelial corneal dystrophies)

Granular dystrophy (all stromal corneal dystrophies except macular, which is AR)

Lattice dystrophy (all stromal corneal dystrophies except macular, which is AR)

Crystalline Schnyder dystrophy (all stromal corneal dystrophies except macular, which is AR)

Fuch's Endothelial dystrophy (endothelial corneal dystrophies, but last two - also AR)

Posterior polymorphous dystrophy (endothelial corneal dystrophies, but last two - also AR)

Congenital endothelial dystrophy (endothelial corneal dystrophies, but last two - also AR)

Congenital hereditary stromal dystrophy 

Posterior embryotoxone

Axenfeld's anomaly and sm (cornea + iris)

Rieger's anomaly and sm (cornea + iris)

Optic nerve drusen

Goldenhar's syndrome (also sporadic)

Myotonic dystrophy 

Oculopharingeal muscular dystrophy (also AR)

Neurofibromatosis (both types; incomplete penetrance and expressivity; chromosome 17 mutation NF1, chromosome 22 - NF2)

Autosomal dominant optic neuropathy

Tuberous sclerosis (chromosome 9, often sporadic)

Von Hippel Lindau Sm (neurocutaneous sm, chromosome 3, cafe-au-lait skin spots, melanocytic skin nevi, CNS hemangioblastoma, retinal capillary hemangioma)

Blepharophimosis sm

Marfan's sm (FBN1 gene; 25% - sporadic new muation)

Stargardt macular degeneration (if ILOV4 gene, if ABCA4 - AR)

Aniridia (PAX6, also sporadic)

Retinitis pigmentosa (rhodopsin - 22-30%, least disabling)

Open angle glaucoma (Myocilin, optineurin)

Best disease (bestrophin, vitterliform macular dystrophy)

posterior polar cataract (also sporadic)

Anterior polar cataract (also sporadic)

Most of isolated bilateral congenital cataracts (30%)

Crouzon sm (craniofacial dysorders)

Familial exudative vitreoretinopathy (FEVR, also SLR)

Stickler's sm (vitreoretinal degeneration)

De Morsier sm (also sporadic, AR)

Autosomal Recessive (AR):

Homocystinuria (bilateral inferonasal lens subluxation, elevated serum homocystin and methionine, seizures, osteoporosis; mental retard)

Congenital glaucoma (10%, also sporadic, rarely AD)

Sclerocornea (also AD, sporadic)

Microcornea (also AD, sporadic)

Cornea plana (also AD, sporadic)

Wilson's disease

Mucopolysaccharidosis (mostly)

cystinosis (infantile, adolescent forms)

oculopharyngeal muscular dystrophy (also AD)

Ataxia teleangiectasia (neurocutaneous sm, chromosome 11)

Leber congenital amaurosis

gyrate atrophy

sorsby retinopathy

galactosemia (insufficiency of ferments to process diary products, oil-droplet cataract, bilateral, lenticular myopia)

Weill-Marchesani sm (spherical lens, short stature, angle-closure with pilocarpine)

Stargardt macular degeneration (if ABCA4 gene, if ELOV4 - AD)

Oculocutaneous albinism 

Ocular albinism (also SLR, including Hermansky-Pudlak sm and Chediak-Hipashi sm)

Achromatopsia (total lack of cones, color blindness, low VA, nystagmus)

Goldmann-Favre dystrophy (vitreoretinal degeneration)

Retinitis pigmentosa (16%, also AD, SLR, sporadic)

De Morsier sm (unilateral optic nerve hypoplasia + absense of septum pellucidum + pituitary abnormalities - septo-optic dysplasia)

Sex-Linked Recessive (SLR):

Anterior megalophthalmos (megalocornea)

Mucopolysaccharidosis (Hunter's)

Congenital color blindness (red-green, true color blindness, except rod monochromatism - AR)

Turner's sm (XO, 45X)

Norrie's disease

Juvenile retinoschisis

Choroideremia

Ocular albinism (also AR)

Lowe sm

Blue-cone monochromatism

Schubert-Bornschein sm

Choroideremia

Oguchi disease (congenital stationary night blindness)

Familial exudative vitreoretinopathy (FEVR, also AD)

Retinitis pigmentosa (9%, most disabling, also AD, AR, sporadic)

Sex-Linked Dominant (SLD) - Rare!

Incontinentia pigmenti (neurocutaneous sm, hyperpigmented maculas, christmas tree-like pattern of trunk, epilepsy, mental retard, proleferative retinopathy)

Alport's sm (COL4A5, deafness, glomerulonephritis, lenticonus, ant.polar cataract)

Aicardi sm

Mitochondrial (Mother's DNA):

Leber's Optic Neuropathy

Kearn Sayre Sm (pigmentary retinitis, progressive external ophthalmoplegia, heart block, sudden death)

CPEO

add:

gradenigo sm

down sm