Investigation By Condition/Syndrome

Conditions and Syndromes

Bestrophinopathy

Introduction

The bestrophinopathies are a group of inherited retinal dystrophies due to mutations in BEST1 and characterised by reduced vision and an early and significant reduction in the electro-oculogram (EOG) light rise. Diseases attributable to BEST1 mutations include Best disease or vitelliform macular dystrophy (VMD) and autosomal recessive bestrophinopathy (ARB).

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Choroideremia

Introduction

Choroideremia is an X-linked ocular disorder that leads to the degeneration of the choriocapillaris, retinal pigment epithelium, and the retinal photoreceptor of the eye due to mutations in the CHM gene, which encodes Rab escort protein-1 (REP1).

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Congenital Cataract

Introduction

We offer a comprehensive next generation sequencing mutation scan of 114 genes known to cause congenital cataracts. We provide a comprehensive scientific interpretation of variants found and issue a report summarising our findings.

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Doyne Honeycomb Retinal Dystrophy (DHRD) mutation analysis

Introduction

Screening is limited to the p.Arg345Trp mutation in the EGF-Containing Fibulin-like Extracellular Matrix Protein 1 (EFEMP1) gene. This mutation is the only mutation associated with DHRD.

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Late Onset Retinal Dystrophy (LORD)

Introduction

We offer testing for c.489C>G [p.Ser163Arg] mutation in CTRP5/C1QTNF5. This mutation is the only mutation associated with LORD.

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Lowe Syndrome

Introduction

Lowe syndrome is an X-linked recssive disorder involving the eye, the nervous system and the kidney. Hypotonia and congenital cataracts are generally present at birth. The estimated prevalence is approximately 1 in 500,000 (all ethnicities) The disease is caused by mutations in the OCRL gene, localized at Xq26.1 coding for phosphatidylinositol (4,5) bisphosphate 5 phosphatase. There are no common mutations, most mutations are unique to a family.

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Macular Dystrophy

Introduction

We offer RDS/Peripherin analysis for macular dystrophy. An unquantified percentage of macular and pattern dystrophy cases are caused by mutations in the RDS/Peripherin gene.

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Norrie Disease

Introduction

Norrie disease (ND) is an X-linked recessive disorder characterized by very early childhood blindness resulting from developmental vascular abnormalities of the neuroretina. Approximately 50% of patients have associated developmental delay and about one-third of patients develop sensorineural deafness. Norrie disease (ND) is caused by mutations in the gene encoding norrin (NDP).

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Retinal Degeneration Conditions

Introduction

We offer a comprehensive next generation sequencing mutation scan of 177 genes known to cause inherited retinal disease including an interpretation of variants found.

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Retinoblastoma

Introduction

Retinoblastoma is a malignant intraocular tumour occurring predominantly in children under 3-4y. The incidence of this disease is 1 in 15,000-25,000. Approximately 35 to 45% of all RB cases are heritable as defined by a family history and/or the presence of bilateral or multifocal tumours. In familial cases, the disease is autosomal dominant with high penetrance (90%). The remainder usually present as unilateral solitary tumours, with approximately 15% of these unilateral cases having a germline mutation. The gene for retinoblastoma (RB1) is localised at 13q14.

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Sorsby Fundus Dystrophy (SFD)

Introduction

We offer screening of exon 5 and the intron 4/exon 5 splice acceptor site of the tissue inhibitor of metalloproteinases-3 (TIMP-3) gene for cases of SFD.

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X-Linked Retinitis Pigmentosa

Introduction

We offer molecular genetic testing for RPGR/RP3 (including ORF15) and RP2 that account for the majority of cases of X-Linked RP. Approximately 38% of XLRP cases are due to mutations in ORF15, RPGR and RP2 account for a further 10-25% each.

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