All of them showed waxen pallor in the optic disc and 92% showed arteriolar attenuation. [go.gale.com]

Rib-Polydactyly Syndrome AR 99.54 23 of 23 EXOSC2 Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies AR 100 3 of 3 EYS Retinitis Pigmentosa AR 99.54 358 of 379 FAM161A Retinitis Pigmentosa AR 99.74 22 of 23 FDXR Auditory Neuropathy [igenomix.es]

Bardet-Biedl syndrome 11615988 TRNT1Retinitis pigmentosa and erythrocytic microcytosis,616959 TRNT1Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay,616084 TRPM1Night blindness, congenital stationary (complete [qgenomics.com]

Senior-Loken Syndrome AR 96.29 18 of 19 SEMA4A Cone-Rod Dystrophy, Retinitis Pigmentosa AD,AR 99.94 15 of 15 SH2B1 Distal 16p11.2 Microdeletion Syndrome, Proximal 16p11.2 Microdeletion Syndrome – 99.98 25 of 25 SLC19A2 Thiamine-Responsive Megaloblastic Anemia [igenomix.es]

[…] and cataracts,613730 KCNJ13Leber congenital amaurosis 16614186 KCNJ13Snowflake vitreoretinal degeneration,193230 KCNV2Retinal cone dystrophy 3B,610356 KERACornea plana congenita, recessive,217300 KIF11Microcephaly with or without chorioretinopathy, lymphedema [qgenomics.com]

Retinitis Pigmentosa AD 99.92 – KIF5A Autosomal Dominant Spastic Paraplegia AD 100 85 of 85 KIZ Retinitis Pigmentosa AR na – KLHL7 Retinitis Pigmentosa, Bohring-Opitz Syndrome AD,AR 98.69 19 of 19 KNTC1 Orbital Plasma Cell Granuloma, Chronic Orbital Inflammation [igenomix.es]

Night blindness, congenital stationary, type 1G, 616389 GNAT2 Achromatopsia-4, 613856 GNB3 Night blindness, congenital stationary, type 1H, 617024 GNB3 {Hypertension, essential, susceptibility to}, 145500 GNPTG Mucolipidosis III gamma, 252605 GPR143 Nystagmus [qgenomics.com]

Blindness X,XR,G 100 – CACNA2D4 Retinal Cone Dystrophy, Cone Rod Dystrophy, Congenital Stationary Night Blindness AR 99.64 7 of 7 CC2D2A Coach Syndrome, Joubert Syndrome, Meckel Syndrome AR 99.43 98 of 100 CCDC103 Primary Ciliary Dyskinesia AR 99.92 [igenomix.es]

It characterizes by a night blindness and loss of the peripheral visual field. It usually appears prematurely in the youth years. This article aims to describe the eye and visual clinical findings in 12 patients with retinitis pigmentosa. [go.gale.com]

Relative scotoma was more frequent, although visual acuity between 20/400 and PL of 25%, and 41.7% of the patients had absolute scotoma in the right and left eyes, respectively. [go.gale.com]