IllnessSorsby pseudoinflammatory fundus dystrophy, differential diagnosis

Summary

Short information

Curated sequence analysis of 1 or altogether 4 genes according to the clinical suspicion Sorsby pseudoinflammatory fundus dystrophy, differential diagnosis

SS0860

Number of genes

4 Accredited laboratory test

Examined sequence length

0,7 kb (Core-/Core-canditate-Genes)
5,0 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
TIMP3	636	188826	NM_000362.5	AD
BEST1	1758	607854	NM_004183.4	AD, AR
EFEMP1	1482	601548	NM_001039348.3	AD
PRPH2	1041	179605	NM_000322.5	AD, AR, digenisch

Informations about the disease

Clinical Comment

Progressive AD macular dystrophy, presenting between the 3rd-6th decades, characterized by retinal atrophy + retinal detachment, leading to loss of central vision, then peripheral vision, eventually blindness

Synonyms

Alias: Retinal dystrophy, loss of central vision, macular disease
Alias: Sorsby pseudoinflammatory fundus dystrophy
Allelic: Bestrophinopathy, AR (BEST1)
Allelic: Choroidal dystrophy, central areolar 2 (PRPH2)
Allelic: Leber congenital amaurosis 18 (PRPH2)
Allelic: Microcornea, rod-cone dystrophy, cataract + posterior staphyloma 2 (BEST1)
Allelic: Retinitis pigmentosa 7 + digenic form (PRPH2)
Allelic: Retinitis pigmentosa, concentric (BEST1)
Allelic: Retinitis pigmentosa-50 (BEST1)
Allelic: Retinitis punctata albescens (PRPH2)
Allelic: Vitreoretinochoroidopathy (BEST1)
Doyne honeycomb degeneration of retina (EFEMP1)
Macular dystrophy, patterned, 1 (PRPH2)
Macular dystrophy, vitelliform, 2 (BEST1)
Macular dystrophy, vitelliform, 3 (PRPH2)

Heredity, heredity patterns etc.

AD
AR
digenisch

OMIM-Ps

188826

ICD10 Code

Bioinformatics and clinical interpretation

No text defined