MCID: INH030
MIFTS: 28

Inherited Retinal Disorder

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Inherited Retinal Disorder

MalaCards integrated aliases for Inherited Retinal Disorder:

Name: Inherited Retinal Disorder 58
Retinal Dystrophy 58

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

MESH via Orphanet 45 D058499
UMLS via Orphanet 71 C0854723
Orphanet 58 ORPHA71862

Summaries for Inherited Retinal Disorder

MalaCards based summary : Inherited Retinal Disorder, also known as retinal dystrophy, is related to doyne honeycomb retinal dystrophy and retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities. An important gene associated with Inherited Retinal Disorder is NYX (Nyctalopin). The drugs Acetazolamide and Ranibizumab have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and bone marrow.

Related Diseases for Inherited Retinal Disorder

Diseases in the Retinal Disease family:

Inherited Retinal Disorder Rare Retinal Disorder

Diseases related to Inherited Retinal Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 512)
# Related Disease Score Top Affiliating Genes
1 doyne honeycomb retinal dystrophy 11.7
2 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 11.7
3 cone-rod dystrophy 2 11.6
4 retinal dystrophy, juvenile cataracts, and short stature syndrome 11.6
5 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 11.6
6 bothnia retinal dystrophy 11.6
7 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.6
8 retinal dystrophy with or without extraocular anomalies 11.6
9 retinal dystrophy with leukodystrophy 11.6
10 cone-rod dystrophy 16 11.5
11 retinal dystrophy with or without macular staphyloma 11.5
12 retinal dystrophy and obesity 11.5
13 fundus dystrophy 11.5
14 microphthalmia, syndromic 5 11.5
15 leber congenital amaurosis 14 11.4
16 senior-loken syndrome 1 11.4
17 roifman syndrome 11.4
18 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 11.4
19 fundus albipunctatus 11.4
20 hereditary retinal dystrophy 11.4
21 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome 11.4
22 retinal dystrophy and iris coloboma with or without congenital cataract 11.4
23 cone-rod dystrophy 21 11.4
24 retinal dystrophy, reticular pigmentary, of posterior pole 11.3
25 stargardt disease 1 11.3
26 severe early-childhood-onset retinal dystrophy 11.3
27 retinitis pigmentosa 11.3
28 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome 11.2
29 familial drusen 11.2
30 joubert syndrome 1 11.2
31 syndromic inherited retinal disorder 11.2
32 isolated progressive inherited retinal disorder 11.2
33 isolated stationary inherited retinal disorder 11.2
34 isolated inherited retinal disorder 11.2
35 vitreoretinochoroidopathy 11.2
36 cone-rod dystrophy 1 11.1
37 ceroid lipofuscinosis, neuronal, 11 11.1
38 sorsby fundus dystrophy 11.1
39 bietti crystalline corneoretinal dystrophy 11.1
40 leber congenital amaurosis / early-onset severe retinal dystrophy 11.1
41 retinoschisis 1, x-linked, juvenile 11.1
42 jalili syndrome 11.1
43 poretti-boltshauser syndrome 11.1
44 rpe65-related leber congenital amaurosis / early-onset severe retinal dystrophy 11.1
45 peroxisome biogenesis disorder 2b 11.0
46 alstrom syndrome 11.0
47 peroxisome biogenesis disorder 3b 11.0
48 microphthalmia, syndromic 6 11.0
49 joubert syndrome 5 11.0
50 joubert syndrome 9 11.0

Graphical network of the top 20 diseases related to Inherited Retinal Disorder:



Diseases related to Inherited Retinal Disorder

Symptoms & Phenotypes for Inherited Retinal Disorder

Drugs & Therapeutics for Inherited Retinal Disorder

Drugs for Inherited Retinal Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 2 59-66-5 1986
2
Ranibizumab Approved Phase 2 347396-82-1 459903
3
Brinzolamide Approved Phase 2 138890-62-7 68844
4 Angiogenesis Inhibitors Phase 2
5 Carbonic Anhydrase Inhibitors Phase 2

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 An Open-label, Single-arm Study to Provide Efficacy and Safety Data of Voretigene Neparvovec Administered as Subretinal Injection in Japanese Patients With Biallelic RPE65 Mutation-associated Retinal Dystrophy Recruiting NCT04516369 Phase 3
2 A Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver the Gene for Human RPE65 to the Retinal Pigment Epithelium (RPE) [AAV2-hRPE65v2-301] Active, not recruiting NCT00999609 Phase 3
3 An Open-label Dose Escalation Study of an Adeno-associated Virus Vector (AAV2/2-hRPE65p-hRPE65) for Gene Therapy of Severe Early-onset Retinal Degeneration Completed NCT00643747 Phase 1, Phase 2
4 Efficacy and Safety of Intravitreal Ranibizumab (Lucentis®) Injection in the Treatment of Non-leaking Macular Cysts in Patients With Retinal Dystrophy. Completed NCT03763227 Phase 2 Intravitreal ranibizumab (IVR) injection;Carbonic Anhydrase Inhibitor (CAI) therapy
5 Prospective Monocentric Open Label Non Randomized Uncontrolled Phase I/II Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65 Completed NCT01496040 Phase 1, Phase 2 rAAV2/4.hRPE65
6 An Open-label, Multi-centre, Phase I/II Dose Escalation Trial of an Adeno Associated Virus Vector for Gene Therapy of Adults And Children With Retinal Dystrophy Associated With Defects in RPE65 (LCA) Completed NCT02781480 Phase 1, Phase 2
7 Observational, Follow-up Study of Adaptive Optics Retinal Imaging in Controls and During Retinal or General Diseases Unknown status NCT01546181
8 Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy (Title in France: Compensation of Vision With the Intelligent Retinal Implant System (IRIS V1) in Patients With Retinal Dystrophy) Completed NCT01864486
9 Study on the Effects of Mutations Under Inherited Retinal Disease in Korean Completed NCT03613948
10 Optical Head-Mounted Display Technology for Low Vision Rehabilitation Completed NCT02983305
11 Genetical, Multi-center, Prospective Study of Phenotyping and Genotyping of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy in the Aim of the Realisation of a Clinical Trial of Gene Therapy Completed NCT00422721
12 Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families: Establishment of Genotype-phenotype Correlations and Updating the Clinical Definition of This Retinal Dystrophy Completed NCT02970266
13 Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy Completed NCT02670980
14 Establishment of the National Registry for Inherited Retinal Dystrophy in Iran Recruiting NCT04131400
15 VIsual Cerebral ConnecTivity On Functional Magnetic Resonance Imaging in Patients With Hereditary REtinal Dystrophies Recruiting NCT04648124
16 Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD Recruiting NCT03662386
17 iPS Cells of Patients for Models of Retinal Dystrophies Recruiting NCT03853252
18 Multi-center Observation of the Natural Course of Inherited Retinal Dystrophies Recruiting NCT03691168
19 Objective Perimetry in Normal Subjects,Glaucoma Patients and Retinal Dystrophy Patients Recruiting NCT02014389
20 Long-term Follow-up Study of Participants Following an Open Label, Multi-centre, Phase I/II Dose Escalation Trial of an Adeno-associated Virus Vector (AAV2/5-OPTIRPE65) for Gene Therapy of Adults and Children With Retinal Dystrophy Owing to Defects in RPE65 (LCA2) Recruiting NCT02946879
21 Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03349242
22 A Long-Term Follow-Up Study in Subjects Who Received an Adenovirus-Associated Viral Vector Serotype 2 Containing the Human RPE65 Gene (AAV2-hRPE65v2, Voretigene Neparvovec-rzyl) Administered Via Subretinal Injection Active, not recruiting NCT03602820
23 A Post-Authorization, Multicenter, Longitudinal, Observational Safety Registry Study for Patients Treated With Voretigene Neparvovec in US Active, not recruiting NCT03597399
24 Functional Study of Intronic Variants in Inherited Cone Disorders Not yet recruiting NCT04658251

Search NIH Clinical Center for Inherited Retinal Disorder

Genetic Tests for Inherited Retinal Disorder

Anatomical Context for Inherited Retinal Disorder

MalaCards organs/tissues related to Inherited Retinal Disorder:

40
Eye, Retina, Bone Marrow, Pituitary, Brain, Endothelial, Cortex

Publications for Inherited Retinal Disorder

Articles related to Inherited Retinal Disorder:

(show top 50) (show all 1596)
# Title Authors PMID Year
1
Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa. 61
33441055 2021
2
Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy. 61
33290291 2021
3
Long-term follow-up of a Chinese patient with KCNV2-retinopathy. 61
33372566 2021
4
DEEP PHENOTYPING AND FURTHER INSIGHTS INTO ITM2B-RELATED RETINAL DYSTROPHY. 61
32826790 2021
5
First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature. 61
33427402 2021
6
Allele-Specific Knockout by CRISPR/Cas to Treat Autosomal Dominant Retinitis Pigmentosa Caused by the G56R Mutation in NR2E3. 61
33807610 2021
7
First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia. 61
33689237 2021
8
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy. 61
33077892 2021
9
A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM. 61
30004997 2021
10
Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials. 61
33712480 2021
11
Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy. 61
33712029 2021
12
Peptide Derivatives of Retinylamine Prevent Retinal Degeneration with Minimal Side Effects on Vision in Mice. 61
33677964 2021
13
Diagnostic Analyses of Retinal Dystrophy Genes: Current Status and Perspective. 61
33784789 2021
14
Infra-slow modulation of fast beta/gamma oscillations in the mouse visual system. 61
33428215 2021
15
Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene. 61
33773389 2021
16
Gene Therapy for Inherited Retinal Disorders: Update on Clinical Trials. 61
33784790 2021
17
Peripheral pigmented lesions in ABCA4-associated retinopathy. 61
33706644 2021
18
Rapid and Progressive Loss of Multiple Retinal Cell Types in Cathepsin D-Deficient Mice-An Animal Model of CLN10 Disease. 61
33800998 2021
19
The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss. 61
33799353 2021
20
Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters. 61
33724725 2021
21
Exome sequencing and electro-clinical features in pediatric patients with very early-onset retinal dystrophies: A cohort study. 61
33529788 2021
22
Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74. 61
33748949 2021
23
Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy. 61
33507209 2021
24
Restoration of mGluR6 Localization Following AAV-Mediated Delivery in a Mouse Model of Congenital Stationary Night Blindness. 61
33729473 2021
25
Multimodal imaging of an RPGR carrier female. 61
33620278 2021
26
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome. 61
33576794 2021
27
Bilateral severe microphthalmia in a neonate with trisomy 8 mosaicism: A new finding. 61
33179440 2021
28
Utility of pattern recognition and multimodal imaging in the diagnosis and management of doyne honeycomb retinal dystrophy complicated with type one choroidal neovascular membrane. 61
33526522 2021
29
Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome. 61
33640901 2021
30
Chronic untreated retinal detachment in a patient with choroideremia provides insight into the disease process and potential therapy. 61
33573424 2021
31
A missense variant in IFT122 associated with a canine model of retinitis pigmentosa. 61
33606121 2021
32
Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family. 61
33047631 2021
33
Thirteen Years' Progression of Macular Atrophy in a Patient With Jeune Syndrome. 61
33626172 2021
34
WDR34, a candidate gene for non-syndromic rod-cone dystrophy. 61
33124039 2021
35
Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy. 61
33278565 2021
36
CHM mutation spectrum and disease: An update at the time of human therapeutic trials. 61
33538369 2021
37
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease. 61
32533651 2021
38
Vitamin A deficiency after prolonged intake of an unbalanced diet in a Japanese hemodialysis patient. 61
33544296 2021
39
Surgical Transplantation of Human RPE Stem Cell-Derived RPE Monolayers into Non-Human Primates with Immunosuppression. 61
33450191 2021
40
Retinal degeneration-3 protein promotes photoreceptor survival by suppressing activation of guanylyl cyclase rather than accelerating GMP recycling. 61
33539922 2021
41
Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy. 61
33624564 2021
42
Retinal dystrophy as part of TTC21B-associated ciliopathy. 61
33599192 2021
43
[Experimental therapeutic approaches for the treatment of retinal dystrophy in neuronal ceroid lipofuscinosis]. 61
33030566 2021
44
BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells. 61
33572860 2021
45
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes. 61
33791682 2021
46
Novel variants in PNPLA6 causing syndromic retinal dystrophy. 61
33141049 2021
47
Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome. 61
33542958 2021
48
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort. 61
33301772 2021
49
BBS4 Is Essential for Nuclear Transport of Transcription Factors Mediating Neuronal ER Stress Response. 61
32894499 2021
50
Bardet-Biedl Syndrome in an Ethiopian. 61
33776488 2021

Variations for Inherited Retinal Disorder

Expression for Inherited Retinal Disorder

Search GEO for disease gene expression data for Inherited Retinal Disorder.

Pathways for Inherited Retinal Disorder

GO Terms for Inherited Retinal Disorder

Sources for Inherited Retinal Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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