RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN
RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE
RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT
Severe early childhood onset retinal dystrophy
CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN
Cone dystrophy with supernormal rod response
Sorsby pseudoinflammatory fundus dystrophy
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, RECESSIVE FORM
Adult-onset foveomacular vitelliform dystrophy
Dystrophies primarily involving the retinal pigment epithelium
Reticular dystrophy of the retinal pigment epithelium
RETINAL DYSTROPHY, RETICULAR PIGMENTARY OF POSTERIOR POLE
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
Multi-focal pattern dystrophy simulating fundus flavimaculatus
Helicoid peripapillary chorioretinal degeneration
Benign concentric annular macular dystrophy
Pigmented paravenous retinochoroidal atrophy
Progressive bifocal chorioretinal atrophy
Inner Retinal and/or Vitreoretinal Dystrophies
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Systemic/syndromic diseases associated with retinal dystrophies
X- linked intellectual disability - retinitis pigmentosa syndrome
Microcephaly-lymphedema-chorioretinopathy syndrome
Infantile cerebellar retinal degeneration
Retinal degeneration- nanophthalmos- glaucoma syndrome
Macular coloboma-cleft palate-hallux valgus syndrome
Hypogonadotropic hypogonadism- retinitis pigmentosa syndrome
Polyneuropathy- hearing loss- ataxia- retinitis pigmentosa- cataract syndrome
Pseudoxanthoma elasticum- like skin manifestations with retinitis pigmentosa
Retinitis pigmentosa- intellectual disability- deafness- hypogonadism syndrome
SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
Spastic tetraplegia- retinitis pigmentosa- intellectual disability syndrome
PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA
RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS
RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA
HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
SKELETAL DYSPLASIA, RHIZOMELIC, WITH RETINITIS PIGMENTOSA
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS
Congenital & Stationary Retinal Diseases
Congenital stationary night blindness (CSNB)
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3
CONE ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H
Congenital stationary night-blinding disease with normal fundi
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
Congenital night- blinding disorders with prominent fundus abnormality
X-linked cone dysfunction syndrome with myopia
Ectopia lentis - chorioretinal dystrophy – myopia syndrome
Autosomal recessive choroidopathy microcephaly syndrome
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3
Brachydactyly-short stature-retinitis pigmentosa syndrome
Microcornea- myopic chorioretinal atrophy telecanthus syndrome
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
X- linked intellectual disability limb spasticity retinal dystrophy- diabetes insipidus syndrome
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Hypotrichosis with juvenile macular degeneration
Autosomal recessive leukoencephalopathy- ischemic stroke- retinitis pigmentosa syndrome
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Muscular atrophy- ataxia- retinitis pigmentosa- diabetes mellitus syndrome
Osteochondrodysplatic nanism- deafness retinitis pigmentosa syndrome
Primary ciliary dyskinesia- retinitis pigmentosa syndrome
Retinitis pigmentosa- hearing loss- premature aging- short suture- facial dysmorphism syndrome
Retinitis pigmentosa- juvenile cataract- short stature- intellectual disability syndrome
RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS
SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND MENTAL RETARDATION
DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA
MICROCEPHALY, RETINITIS PIGMENTOSA, AND SUTURAL CATARACT
Panthenate kinase- associated neuodegeneration