What's New in Genes and Loci Causing Retinal Diseases

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Listed in Chromosomal Order.

Total entries = 15 (last updated November 2, 2023).

New and Updated Retinal Disease Genes and Loci

OMIM Numbers
Location Diseases;
How Identified;
1p36.33 recessive retinitis pigmentosa; protein: sterile alpha motif domain containing 11 protein [Gene] homozygosity mapping, whole-exome sequencing; a single homozygous SAMD11 p.Arg630* nonsense mutation found in five affected members of two unrelated consanguineous Spanish families with recessive RP; the SAMD11 transcript and protein are abundant in retina; the transcript is present in the early mouse embryo and widely expressed with 45 alternate splice variants; only ocular symptoms were documented in affected individuals; the SAMD11 protein is involved in signal transduction and regulation of transcription and interacts with CRX Corton 16
606351, 609006
1p36.31 recessive Usher syndrome; protein: espin protein [Gene] homozygosity mapping, whole-exome sequencing; a homozygous deletion in the ESPN gene was found in a large, extended, consanguineous Pakistani family with prelingual hearing loss, vestibular dysfunction, and retinal dystrophy consistent with a diagnosis of Usher syndrome type 1; the disease type is called "USH1M" in this publication; previously reported dominant-acting and recessive ESPN mutations cause non-syndromic deafness; the gene product is an actin-bundling protein which plays a role in transduction in mechanosensory and chemosensory cells Ahmed 18; Donaudy 06; Naz 04
1p34.2 dominant optic atrophy, deafness, ichthyosis and neuronal disorders; protein: elongation of very long fatty acids-like protein 1 [Gene] whole-exome sequencing; identical, de novo, dominant ELOVL1 mutations were identified in two unrelated Polish children with neurologic disease, dermatologic findings, dysmorphic features, deafness and visual abnormalities including optic atrophy; similar findings were reported by independent investigators; disease features overlap with recessive ELOVL4 mutations; the ELOVL genes are involved in fatty acid elongation, metabolism and membrane maintenance Kutkowska-Kazmierczak 18; Mueller 19
253280, 268000, 606822, 613151, 613157
1p34.1 recessive retinitis pigmentosa; protein: protein O-linked acetylglucosaminyltransferase 1 (beta 1,2-) [Gene] whole-exome sequencing; homozygous and compound heterozygous POMGNT1 mutations identified in Italian and Chinese families with recessive RP but no other apparent symptoms; other recessive mutations in POMGNT1 cause congenital brain and eye anomalies (Walker-Warburg syndrome or muscular dystrophy-dystroglycanopathy); the POMGNT1 protein is in the O-mannosylation glycosylation pathway and localizes to photoreceptor basal bodies Xu 16
CLCC1, RP32;
268000, 609913, 617539
1p13.3 recessive retinitis pigmentosa, severe; protein: chloride intracellular ion channel (CLIC)-like protein 1 [Gene] linkage mapping, whole-exome sequencing; a homozygous missense mutation in CLCC1 was identified in seven Pakistani Punjab families and a British-Bangladeshi family with early onset, severe RP; the locus was originally mapped to 1p and named RP32; zebrafish and mouse CLCC1 knockout models have retinal findings consistent with the human disease; the CLCC1 protein is highly expressed in retina and functions as an intracellular chloride channel Li 18; Zhang 05
1q21.3 recessive retinitis pigmentosa; protein: endosulfine alpha protein [Gene] exome sequencing; compound heterozygous loss-of-function variants in ENSA found in an isolated patient with RP Yi 20
1q32.1 recessive retinitis pigmentosa, syndromic, Bardet-Biedl like; dominant retinitis pigmentosa; protein: adiponectin receptor 1 [Gene] whole-exome sequencing; a homozygous frameshift mutation in ADIPOR1 was identified in a patient with RP and intellectual disability in a consanguineous Indian family, and a heterozygous missense mutation was identified in a large Chinese family with dominant, non-syndromic RP; ADIPOR1 is expressed in photoreceptors and RPE, and the protein is involved in uptake and retention of DHA Xu 16a; Zhang 16
612907, 616084
3p26.2 recessive retinitis pigmentosa with erythrocytic microcytosis; recessive retinitis pigmentosa, non-syndromic; protein: CCA adding tRNA nucleotidyl transferase 1 [Gene] whole-exome sequencing; recessive mutations in TRNT1 cause a spectrum of diseases including sideroblastic anemia with immunodeficiency, fevers and developmental delay (SIFD), SIFD with RP, and non-syndromic RP; partially functional (hypomorphic) TRNT1 mutations cause RP with erythrocytic abnormalities; the TRNT1 protein is required for tRNA function and is essential for protein synthesis Chakraborty 14; DeLuca 16
3p24.1 recessive rod-cone dystrophy; protein: solute carrier (sodium bicarbonate transporter) family 4 member 7 protein [Gene] exome sequencing; homozygous SLC4A7 frameshift mutations found in an isolated male with late onset, slowly progressing CORD Ahn 20
3p21.2 dominant Martinique retinal dystrophy and retinitis pigmentosa; protein: mitogen-activated protein kinase-activated protein kinase 3 [Gene] whole-exome sequencing; symptoms of Martinique retinal dystrophy, also called Martinique crinkled retinal pigment epitheliopathy (MCRPE), include late-onset "dry desert" fundus findings, changes in RPE cells and Bruch's membrane, and RP subsequently; the disease occurs in a large, multi-generational family from the West Indies Islands; a single, dominant-acting, MAPKAPK3 Leu173Pro mutation was identified in the family; the MAPKAP3 gene product is a serine/threonine protein kinase highly expressed in RPE with a role in p38 signaling in cellular metabolism and stress response Meunier 16
176880, 612336
3q11.1 recessive retinitis pigmentosa, juvenile; protein: vitamin K-dependent protein S [Gene] exome sequencing; homozygous PROS1 mutations found in two unrelated, consanguineous Pakistani families with juvenile, non-syndromic RP Bushehri 19
CEP19, C3orf34, MOSPGF;
615586, 615703
3q29 recessive Bardet-Biedl syndrome; protein: centrosomal protein 19 [Gene] linkage mapping, whole-exome sequencing; a homozygous, truncating CEP19 mutation was found in several affected members of a consanguineous, extended Pakistani family with variable polydactyly, rod-cone dystrophy and other features of Bardet-Biedl syndrome; previously, a homozygous CEP19 nonsense mutation was identified in an Arab family with morbid obesity but, apparently, without other BBS symptoms; like other BBS proteins, the CEP19 gene product localizes to centrosomes and primary cilia, and plays a role in centrosomal and ciliary function Yildiz Bölükbasi 18
250410, 617170
5q12.3 recessive retinitis pigmentosa, non-syndromic; recessive retinitis pigmentosa and skeletal anomalies; protein: spliceosome-associated cyclophilin [Gene] sequencing; several different homozygous nonsense mutations in seven families with symptoms ranging from non-syndromic RP to retinal degeneration with skeletal anomalies Xu 17
POC5, C5orf37;
5q13.3 recessive syndromic disease with retinitis pigmentosa; protein: homolog of Chlamydomonas proteome of centriole 5 protein [Gene] whole-exome sequencing; a homozygous nonsense mutation was found in a Moroccan/Yemenite Jewish girl with microcephaly, short stature, glomerulonephritis and RP; the POC5 gene is ubiquitously expressed and codes for a highly-conserved protein which localizes to centrioles and is required for normal retinal development Weisz Hubshman 18
608970, 116805
5q31.2 dominant macular dystrophy, butterfly-shaped; protein: catenin alpha 1 [Gene] linkage mapping, whole-exome sequencing; Dutch family; other butterfly dystrophy loci excluded; 52 Mb critical region; original disease symbol "BSMD" den Hollander 04; Saksens 16
AHR, RP85;
600253, 618345
7p21.1 recessive retinitis pigmentosa; protein: aryl hydrocarbon receptor [Gene] whole-exome sequencing; a homozygous AHR splicing variant was identified in three consanguineous members of an Indian family with recessive RP, with comparable findings in a conditional knockout mouse; AHR is widely expressed and codes for a highly-conserved protein, an aryl hydrocarbon receptor, which functions as a transcription factor involved in response to toxins and ligands including halogenated aromatic hydrocarbons Zhou 18
606630, 618970
8q22.3 recessive cone-rod dystrophy, congenital syndromic nonprogressive; protein: synaptic membrane exocytosis 2 regulating protein [Gene] whole-genome sequencing; comment pending Mechaussier 20
CEP78, C9orf81, CRDHL;
617110, 617236
9q21.2 recessive cone-rod dystrophy with hearing loss; recessive Usher syndrome, atypical; protein: centrosomal protein 78 [Gene] homozygosity mapping, whole-exome sequencing; homozygous and compound heterozygous CEP78 mutations found in Greek, Swedish and Jewish families with CORD and adolescent or late-onset neurosensory hearing loss; two consanguineous Chinese families with homozygous CEP78 mutations were reported to have atypical Usher syndrome but with symptoms consistent with CORD and mild hearing loss; the CEP78 gene is widely expressed, with three splice variants particularly abundant in retina; the CEP78 protein plays a role in centrosomal function and ciliogenesis Fu 17; Namburi 16; Nikopoulos 16
613363, 615633
9q34.11 recessive rod-cone dystrophy, non-syndromic; recessive short-rib thoracic dysplasia, polydactyly and retinal dystrophy; protein: dynein 2 intermediate chain 2 protein [Gene] homozygosity mapping, sequencing; also called WD repeat-containing protein 34 (WDR34); homozygous missense mutations in DYNC2I2 in a consanguineous patient with non-syndromic rod-cone dystrophy, a gene also associated with complex skeletal anomalies Solaguren-Beascoa 21
9q34.12 recessive retinitis pigmentosa with hearing loss and additional disabilities; protein: exosome component 2 [Gene] whole-exome sequencing; homozygous and compound heterozygous mutations in EXOSC2 observed in two German families; affected individuals have early-onset RP, childhood myopia, congenital anomalies, hearing loss, short stature, premature aging and mild intellectual impairment; the EXOSC2 protein is a subunit of the exosome ribonuclease complex involved in mRNA processing Di Donato 16
ARL3, RP83;
604695, 618173
10q24.32 dominant retinitis pigmentosa; protein: ADP ribosylation factor like GTPase 3 [Gene] whole-exome sequencing; a de novo, damaging missense mutation in ARL3 segregates in two generations of a family with autosomal dominant RP; ADP-ribosylation factors are small GTPase enzymes; the ARL3 protein interacts with the RP2 protein and regulates trafficking of prenylated proteins and ciliogenesis in the rod outer segment Hanke-Gogokhia 16; Strom 16; Wright 16
11q12.3 recessive retinal degeneration; protein: asparaginase-like protein 1 [Gene] linkage mapping, candidate gene; a homozygous missense mutation identified in multiple affected members of an extended, consanguineous Pakistani family; the gene is widely expressed but only ocular symptoms are seen, including pigmentary retinopathy, retinal vessel attenuation and bulls-eye pattern dystrophy; the ASRGL1 protein is an enzyme that catalyzes hydrolysis of L-asparagine and isoaspartyl-dipeptides; function in the retina is unknown Biswas 16
603297, 613091
11q22.3 recessive retinal degeneration, non-syndromic; protein: dynein heavy chain isotype 1B protein [Gene] genome sequencing; five families with different homozygous or compound heterozygous mutations in DYNC2H1 causing non-syndromic retinal degeneration, a gene also associated with complex skeletal anomalies Vig 20
139130, 145500, 617024
12p13.31 recessive congenital stationary night blindness; protein: G protein subunit beta 3 [Gene] whole-exome sequencing; homozygous and compound heterozygous mutations in multiple families; mutations cause an uncommon form of CSNB, type 1H, with childhood night-blindness, late-onset photophobia and retinal ON bipolar cell dysfunction but otherwise normal vision; the GNB3 protein modulates cone-responsive ON bipolar cell response; there is suggestive association of polymorphic variation in GNB3 with essential hypertension; naturally occurring chicken model, Gβ3 Arno 16a; Tummala 06; Vincent 16
12q15 recessive Leber congenital amaurosis; protein: chaperonin containing TCP1 (T-complex polypeptide 1) subunit 2 [Gene] whole exome sequencing; compound heterozygous mutations in a Chinese LCA family; a zebrafish model with a homozygous mutation develops abnormal eyes and retina; the two affected patients have retinal dystrophy, hearing loss and developmental delay but no other features of Bardet-Biedl syndrome; the CCT2 protein is a subcomponent of a chaperon complex which stabilizes protein folding and transport Minegishi 16; Minegishi 18
IFT81, CDV1;
605489, 617895
12q24.11 recessive cone-rod dystrophy; recessive spectrum of ciliopathies including retinal dystrophy; protein: homolog of chlamydomous intraflagelar transport protein 81 [Gene] whole-exome sequencing; compound heterozygous IFT81 mutations found in one patient with non-syndromic CORD; otherwise, recessive mutations cause a spectrum of ciliopathy-related disorders including asphyxiating short-rib thoracic dysplasia, polydactyly, retinal dystrophy and, possibly, nephronophthisis; the IFT81 protein is a component of intraflagellar transport complex B, involved in anterograde ciliary transport Dharmat 17; Duran 16; Perrault 15
13q14.2 recessive syndromic and non-syndromic retinal dystrophy; dominant familial exudative vitreoretinopathy and Coats disease; protein: RCC1 domain- and BTB domain-containing protein 1 [Gene] homozygosity mapping, whole-exome sequencing; heterozygous frame-shift mutations detected in two Taiwanese families with dominant FEVR and Coats disease (and three unaffected "carriers"); homozygous mutations detected in a consanguineous family, and other families, with a range of symptoms including retinal dystrophy alone or with goiter, ovarian insufficiency and intellectual impairment; the RCBTB1 protien is involved in cell-cell signaling and protein ubiquitination Coppieters 16; Wu 16
16p13.3 recessive Leber congenital amaurosis; protein: clusterin associated protein 1 [Gene] whole-exome sequencing; a single homozygous damaging CLUAP1 missense mutation was identified in an isolated (simplex) LCA patient; a homozygous zebrafish knockout of cluap1 develops photoreceptor cell death by day 5 of embryogenesis; the CLUAP1 protein plays a central role in photoreceptor ciliogenesis of the vertebrate eye Lee 14; Soens 16
17q24.2 recessive Usher syndrome, atypical; protein: arylsulfatase G [Gene] whole-exome and whole-genome sequencing; a homozygous missense mutation was found in five patients with late onset retinal degeneration and sensorineural hearing loss; the patients are from three Yemenite Jewish families and first displayed symptoms around age 40; retinal findings include a distinctive ring scotoma; the ARSG protein is a sulfatase enzyme involved in hormone biosynthesis, cell signaling and degradation of heparin sulfate; ARSG mutations in other animals cause neuronal ceroid lipofuscinosis Khateb 18
REEP6, RP77;
268000, 609346, 617304
19p13.3 recessive retinitis pigmentosa; protein: receptor accessory protein 6 (receptor expression enhancer protein 6) [Gene] whole-genome and whole-exome sequencing; compound heterozygous REEP6 mutations found in five unrelated families with recessive RP from the United States and UK, and a homozygous mutation found in a North African consanguineous patient with recessive rod-cone dystrophy; REEP6 activity evaluated in 3D retinal organoid cups; the specific role of the REEP6 protein is unclear, possibly involved in endoplasmic reticulum function and protein transport Agrawal 17; Arno 16; Méjécase 18
268000, 616432, 617433
19p13.2 recessive retinitis pigmentosa; protein: Rho/Rac guanine nucleotide exchange factor 18 [Gene] whole-genome and whole-exome sequencing; homozygous and compound heterozygous ARHGEF18 mutations found in three unrelated patients with non-syndromic, simplex RP, ascertained through the UK NIHR-Bioresource Rare Disease Consortium; the ARHGEF18 gene is widely expressed and the protein is involved in epithelial cell tight-junction formation and apicobasal polarity determination Arno 17
KIF3B, RP89;
603754, 618955
20q11.21 dominant retinitis pigmentosa, non-syndromic; dominant retinitis pigmentosa, syndromic; protein: kinesin family member 3B [Gene] sequencing; one American and one European family with different dominant-acting missense mutations; one family with RP, hepatic fibrosis and polydactyly, the other, multi-generation family, with non-syndromic RP; a homozygous KIF3B missense mutation in Bengal cats causes progressive retinal atrophy; kinesin proteins are involved in chromosome movement and microtubule activity Cogné 20; Ofri 15
22q13.1 dominant optic neuropathy, late onset; protein: mitochondrial elongation factor 1 [Gene] targeted sequencing; heterozygous missense mutations in MIEF1 found in two women with late-onset optic atrophy Charif 21

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