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185 Possible Causes for Severe Early-Onset Retinitis Pigmentosa

  • Metabolic Syndrome

    Alstrom syndrome (ALMS) is a very rare genetic autosomal recessive disease, characterized by early-onset severe abdominal obesity, impaired glucose tolerance or type 2 diabetes[ncbi.nlm.nih.gov] […] with insulin resistance, acanthosis nigricans, hyperlipidemia, childhood progressive retinal degeneration or retinitis pigmentosa and neurosensory hearing loss or deafness[ncbi.nlm.nih.gov]

  • Familial Benign Flecked Retina

    pigmentosa LCA5 Leber congenital amaurosis LRAT Leber congenital amaurosis, Retinal-dystrophy, early-onset severe, Retinitis pigmentosa, juvenile, Retinitis punctata albescens[genda.com.ar] Retinitis pigmentosa Revesz syndrome Severe early-childhood-onset retinal dystrophy Sorsby pseudoinflammatory fundus dystrophy Stargardt disease Syndromic retinitis pigmentosa[se-atlas.de] Dysplasia Retinal Dystrophy, Early Onset Severe retinitis pigmentosa Retinohepatoendocrinologic syndrome Rhegmatogenous Retinal Detachment, Autosomal Dominant Spondyloocular[familydiagnosis.com]

  • Congenital Deafness

    Refsum disease PHYH PEX7 Sensorineural Variable Severe; progressive Anosmia & early-onset retinitis pigmentosa – both universal findings w/variable combinations of neuropathy[ncbi.nlm.nih.gov] Refsum disease PHYH PEX7 SN Variable Severe; progressive Anosmia & early-onset retinitis pigmentosa – both universal findings w/variable combinations of neuropathy, deafness[ncbi.nlm.nih.gov]

  • Retinitis Pigmentosa

    To report a heterozygous female presenting with an early-onset and severe form of X-linked retinitis pigmentosa (XLRP).[ncbi.nlm.nih.gov] Palczewski, Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration, Human Molecular Genetics[doi.org] Cone rod dystrophy, Retinal dystrophy, early-onset severe, Fundus flavimaculatus AR 308 1231 ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract[blueprintgenetics.com]

  • Deafness

    Refsum disease PHYH PEX7 SN Variable Severe; progressive Anosmia & early-onset retinitis pigmentosa – both universal findings w/variable combinations of neuropathy, deafness[ncbi.nlm.nih.gov]

  • Progressive Retinal Dystrophy due to Retinol Transport Defect

    […] degeneration Abca4, Rdh12, Rpe65 retinal disease Abca4 Retinal Dystrophy, Early Onset Severe Abca4 retinitis pigmentosa Abca4, Lrat, Rbp3, Rdh12, Rlbp1, Rpe65 retinitis pigmentosa[rgd.mcw.edu] Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular[mybiosource.com] Dysostosis with Mental Deficiency Abca4 neuritis Abca4 neuropathy Abca4 Newfoundland cone-rod dystrophy Rlbp1 night blindness Rlbp1 peripheral nervous system disease Abca4 retinal[rgd.mcw.edu]

  • Dilated Cardiomyopathy 1R

    severe 248200 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 Enf-702 Retinal dystrophy, early-onset severe 613341 LRAT lecithin retinol acyltransferase (phosphatidylcholine[ac-gen.com] --retinol O-acyltransferase) Enf-703 Retinitis Pigmentosa NUDT19 nudix (nucleoside diphosphate linked moiety X)-type motif 19 Enf-704 Retinitis Pigmentosa MAPRE2 microtubule-associated[ac-gen.com] […] antiproteinase, antitrypsin), member 1 Enf-699 Renal agenesis 191830 RET ret proto-oncogene Enf-700 Restrictive dermopathy, lethal 275210 LMNA lamin A/C Enf-701 Retinal dystrophy, early-onset[ac-gen.com]

  • Bothnia Retinal Dystrophy

    pigmentosa LCA5 Leber congenital amaurosis LRAT Leber congenital amaurosis, Retinal-dystrophy, early-onset severe, Retinitis pigmentosa, juvenile, Retinitis punctata albescens[genda.com.ar] Retinitis punctata albescens Revesz syndrome Septo-optic dysplasia spectrum Severe early-childhood-onset retinal dystrophy Sorsby pseudoinflammatory fundus dystrophy Stargardt[se-atlas.de] Gene Associated Phenotypes ABCA4 Stargardt disease, Retinitis pigmentosa, Cone rod dystrophy, Retinal dystrophy, early-onset severe, Fundus flavimaculatus ABCC6 Recessive[molecularvisionlab.com]

  • Leber Congenital Amaurosis

    retinitis pigmentosa Severe early childhood onset retinal dystrophy (SECORD) Achromatopsia Congenital stationary night blindness (CSNB) Intrauterine infection Autoimmune[eyerounds.org] Reference work entry DOI: 10.1007/978-3-540-29676-8_3269 Synonyms Early onset retinitis pigmentosa; Early onset rod cone dystrophy; Early onset cone rod dystrophy; EOSRD;[link.springer.com] […] blindness MANAGEMENT / COUNSELING POINTS RPE65 mutations are autosomal recessive Effects seem to be isolated to the eye May benefit from gene therapy Differential Diagnosis: Early-onset[eyerounds.org]

  • Retinitis Pigmentosa 37

    […] dystrophy Retinal dystrophy, early-onset severe 248200 ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 Retinal dystrophy, early-onset severe 613341 LRAT lecithin[acgen.es] Conclusions: : Mutations in the C8orf37 gene give rise to an early-onset or adolescent-onset autosomal recessive cone-rod dystrophy or autosomal recessive retinitis pigmentosa[iovs.arvojournals.org] Gene Associated Phenotypes ABCA4 Stargardt disease, Retinitis pigmentosa, Cone rod dystrophy, Retinal dystrophy, early-onset severe, Fundus flavimaculatus ABCC6 Recessive[molecularvisionlab.com]

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