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Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations.
Am J Ophthalmol. 2002 Nov; 134(5):728-34.AJ

Abstract

PURPOSE

To identify the genetic defect and present the ocular and extraocular findings in a large pedigree of predominantly ocular Stickler syndrome.

DESIGN

Observational case series.

METHODS

An eight-generation pedigree with hereditary retinal detachments was retrospectively and prospectively studied. Clinical information was obtained by medical records, telephone interviews, medical questionnaires, detailed ophthalmologic examinations, physical examinations, and personal observations. Linkage analysis of the COL2A1 gene was performed on 21 family members, and mutation analysis was performed on three family members.

RESULTS

The pedigree consisted of 100 affected individuals. The ocular findings, frequently bilateral, consisted of radial perivascular retinal degeneration (RPRD) (100%), vitreous syneresis (100%), high myopia (76%), retinal detachment (65%), presenile cataract development (occurring before 50 years of age; 78%), and glaucoma (18%). Most (70%) of the retinal detachments occurred between 4 and 18 years of age. Extraocular manifestations, characteristic for Stickler syndrome, were detected in only four of 100 (4%) affected individuals. Linkage analysis with COL2A1 flanking markers showed evidence for linkage to the COL2A1 locus. The COL2A1 gene analysis identified a mutation converting a codon TGC for cysteine(86) to a premature termination codon in the alternatively spliced exon 2.

CONCLUSIONS

A variant of Stickler syndrome, caused by mutations in exon 2 of COL2A1, may present in families with all of the ocular findings and no clinically identifiable extraocular findings associated with Stickler syndrome. The predominant ocular findings are a congenitally abnormal vitreous and an acquired radial perivascular retinal degeneration that may lead to complicated childhood and adult retinal detachment.

Authors+Show Affiliations

Retina Specialists of Alabama LLC, Birmingham, Alabama 35205, USA. e63parm@aol.comNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12429250

Citation

Parma, Edward S., et al. "Radial Perivascular Retinal Degeneration: a Key to the Clinical Diagnosis of an Ocular Variant of Stickler Syndrome With Minimal or No Systemic Manifestations." American Journal of Ophthalmology, vol. 134, no. 5, 2002, pp. 728-34.
Parma ES, Körkkö J, Hagler WS, et al. Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations. Am J Ophthalmol. 2002;134(5):728-34.
Parma, E. S., Körkkö, J., Hagler, W. S., & Ala-Kokko, L. (2002). Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations. American Journal of Ophthalmology, 134(5), 728-34.
Parma ES, et al. Radial Perivascular Retinal Degeneration: a Key to the Clinical Diagnosis of an Ocular Variant of Stickler Syndrome With Minimal or No Systemic Manifestations. Am J Ophthalmol. 2002;134(5):728-34. PubMed PMID: 12429250.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations. AU - Parma,Edward S, AU - Körkkö,Jarmo, AU - Hagler,William S, AU - Ala-Kokko,Leena, PY - 2002/11/14/pubmed PY - 2002/11/26/medline PY - 2002/11/14/entrez SP - 728 EP - 34 JF - American journal of ophthalmology JO - Am J Ophthalmol VL - 134 IS - 5 N2 - PURPOSE: To identify the genetic defect and present the ocular and extraocular findings in a large pedigree of predominantly ocular Stickler syndrome. DESIGN: Observational case series. METHODS: An eight-generation pedigree with hereditary retinal detachments was retrospectively and prospectively studied. Clinical information was obtained by medical records, telephone interviews, medical questionnaires, detailed ophthalmologic examinations, physical examinations, and personal observations. Linkage analysis of the COL2A1 gene was performed on 21 family members, and mutation analysis was performed on three family members. RESULTS: The pedigree consisted of 100 affected individuals. The ocular findings, frequently bilateral, consisted of radial perivascular retinal degeneration (RPRD) (100%), vitreous syneresis (100%), high myopia (76%), retinal detachment (65%), presenile cataract development (occurring before 50 years of age; 78%), and glaucoma (18%). Most (70%) of the retinal detachments occurred between 4 and 18 years of age. Extraocular manifestations, characteristic for Stickler syndrome, were detected in only four of 100 (4%) affected individuals. Linkage analysis with COL2A1 flanking markers showed evidence for linkage to the COL2A1 locus. The COL2A1 gene analysis identified a mutation converting a codon TGC for cysteine(86) to a premature termination codon in the alternatively spliced exon 2. CONCLUSIONS: A variant of Stickler syndrome, caused by mutations in exon 2 of COL2A1, may present in families with all of the ocular findings and no clinically identifiable extraocular findings associated with Stickler syndrome. The predominant ocular findings are a congenitally abnormal vitreous and an acquired radial perivascular retinal degeneration that may lead to complicated childhood and adult retinal detachment. SN - 0002-9394 UR - https://www.unboundmedicine.com/medline/citation/12429250/Radial_perivascular_retinal_degeneration:_a_key_to_the_clinical_diagnosis_of_an_ocular_variant_of_Stickler_syndrome_with_minimal_or_no_systemic_manifestations_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S000293940201646X DB - PRIME DP - Unbound Medicine ER -