Cataract, and Progressive visual loss

• Cataract
• Visual loss
• Rod-cone dystrophy
• Pallor
• Nyctalopia

SOURCES: OMIM MENDELIAN

• Cataract
• Visual impairment
• Glaucoma
• Corneal opacity
• Progressive visual loss

SOURCES: OMIM MENDELIAN

• Cataract
• Myopia
• Retinal detachment
• Progressive visual loss
• Chorioretinal atrophy

SOURCES: OMIM MENDELIAN

Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.

BIETTI CRYSTALLINE DYSTROPHY Is also known as bietti crystalline corneoretinal dystrophy|bcd|bietti crystalline retinopathy|bietti tapetoretinal degeneration with marginal corneal dystrophy|bietti crystalline dystrophy

• Cataract
• Visual impairment
• Myopia
• Blindness
• Rod-cone dystrophy

SOURCES: MESH OMIM ORPHANET MENDELIAN

Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.

CHOROIDEREMIA Is also known as tcd|chm|tapetochoroidal dystrophy|tapetochoroidal dystrophy, progressive

• Intellectual disability
• Hearing impairment
• Cataract
• Visual impairment
• Myopia

SOURCES: ORPHANET OMIM MENDELIAN

Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.

COATS DISEASE Is also known as retinal telangiectasis|congenital retinal telangiectasia|leber miliary aneurysm

• Strabismus
• Cataract
• Edema
• Visual loss
• Glaucoma

SOURCES: ORPHANET OMIM MESH MENDELIAN

X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.

X-LINKED RETINOSCHISIS Is also known as rs|x-linked juvenile retinoschisis|xlrs|xlrs1

• Nystagmus
• Strabismus
• Cataract
• Visual impairment
• Blindness

SOURCES: OMIM ORPHANET MENDELIAN

Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (OMIM ). Genetic Heterogeneity of Usher syndrome Type IIIUsher syndrome type IIIB (OMIM ) is caused by mutation in the HARS gene (OMIM ) on chromosome 5q31.3.

USHER SYNDROME TYPE 3 Is also known as ush3|usher syndrome, type iii

• Hearing impairment
• Ataxia
• Neoplasm
• Sensorineural hearing impairment
• Cataract

SOURCES: ORPHANET OMIM MENDELIAN

Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported.

PROGRESSIVE RETINAL DYSTROPHY DUE TO RETINOL TRANSPORT DEFECT Is also known as retinol dystrophy-iris coloboma-comedogenic acne syndrome

• Cataract
• Visual impairment
• Patent ductus arteriosus
• Reduced visual acuity
• Coloboma

SOURCES: OMIM ORPHANET MENDELIAN

Cone-rod dystrophy (CORD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. RP is characterized initially by rod photoreceptor dysfunction, giving rise to night blindness, which is followed by progressive rod and cone photoreceptor dystrophy, resulting in midperipheral vision loss, tunnel vision, and sometimes blindness. In contrast to RP, CORD is characterized by a primary loss of cone photoreceptors and subsequent or simultaneous loss of rod photoreceptors. The disease in most cases becomes apparent during primary-school years, and symptoms include photoaversion, decrease in visual acuity with or without nystagmus, color vision defects, and decreased sensitivity of the central visual field. Because rods are also involved, night blindness and peripheral vision loss can occur. The diagnosis of CORD is mainly based on electroretinogram (ERG) recordings, in which cone responses are more severely reduced than, or equally as reduced as rod responses (summary by Estrada-Cuzcano et al., 2012).

CONE-ROD DYSTROPHY 16; CORD16 Is also known as retinal dystrophy with early macular involvement

• Nystagmus
• Cataract
• Visual impairment
• Myopia
• Blindness

SOURCES: OMIM MENDELIAN