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Snowflake vitreoretinal degeneration: follow-up of the original family.
Ophthalmology. 2003 Dec; 110(12):2418-26.O

Abstract

PURPOSE

The ocular findings, systemic features, and genetic loci distinguishing known genetic causes of vitreoretinal degenerations were studied in the original Snowflake family.

DESIGN

Prospective, comparative study and molecular genetic investigation.

PARTICIPANTS

Members of the original snowflake vitreoretinal degeneration family.

METHODS

Clinical data were collected on 26 family members by history and examination. Thirteen of the 26 total family members underwent prospective examination. Linkage to known vitreoretinal degeneration loci (COL2A1, COL11A1, and the Wagner disease locus) was evaluated with short tandem repeat markers.

MAIN OUTCOME MEASURES

Ocular and systemic features of known vitreoretinal degenerations.

RESULTS

Six of the 13 prospectively examined subjects had snowflake vitreoretinal degeneration. Corneal guttae (4/5; 80%), early onset cataract (5/6; 83%), fibrillar vitreous degeneration (6/6; 100%), and peripheral retinal abnormalities (5/6; 83%), including minute crystallinelike deposits called snowflakes (4/6; 67%), were common. Retinal detachment was seen in 1 of 6 of these prospectively examined subjects (17%). A total of 14 affected subjects were identified within the family, and in 3 (21%), retinal detachment developed. Orofacial features, early-onset hearing loss, and arthritis typical of Stickler syndrome were absent. Linkage to known vitreoretinal degeneration loci was excluded.

CONCLUSIONS

The absence of vitreous gel in the retrolental space and presence of fibrillar vitreous degeneration were consistent with the vitreous structure reported for collagen 11A1 (COL11A1) but not collagen 2A1 (COL2A1) mutations. The absence of systemic features was characteristic of the vitreoretinopathies linked to chromosome 5q13 (Wagner disease and erosive vitreoretinopathy) and mutations in exon 2 of the COL2A1 gene. Snowflakes in the peripheral retina and the absence of nyctalopia, posterior chorioretinal atrophy, and tractional retinal detachment were inconsistent with the chromosome 5q13 vitreoretinopathies. The association of Fuchs' corneal endothelial dystrophy found in this family has not been reported previously in other vitreoretinal degenerations. These findings and the exclusion of known genetic loci suggest snowflake is a distinct vitreoretinal degeneration.

Authors+Show Affiliations

Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

14644728

Citation

Lee, Mike M., et al. "Snowflake Vitreoretinal Degeneration: Follow-up of the Original Family." Ophthalmology, vol. 110, no. 12, 2003, pp. 2418-26.
Lee MM, Ritter R, Hirose T, et al. Snowflake vitreoretinal degeneration: follow-up of the original family. Ophthalmology. 2003;110(12):2418-26.
Lee, M. M., Ritter, R., Hirose, T., Vu, C. D., & Edwards, A. O. (2003). Snowflake vitreoretinal degeneration: follow-up of the original family. Ophthalmology, 110(12), 2418-26.
Lee MM, et al. Snowflake Vitreoretinal Degeneration: Follow-up of the Original Family. Ophthalmology. 2003;110(12):2418-26. PubMed PMID: 14644728.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Snowflake vitreoretinal degeneration: follow-up of the original family. AU - Lee,Mike M, AU - Ritter,Robert,3rd AU - Hirose,Tatsuo, AU - Vu,Cuong D, AU - Edwards,Albert O, PY - 2003/12/3/pubmed PY - 2003/12/19/medline PY - 2003/12/3/entrez SP - 2418 EP - 26 JF - Ophthalmology JO - Ophthalmology VL - 110 IS - 12 N2 - PURPOSE: The ocular findings, systemic features, and genetic loci distinguishing known genetic causes of vitreoretinal degenerations were studied in the original Snowflake family. DESIGN: Prospective, comparative study and molecular genetic investigation. PARTICIPANTS: Members of the original snowflake vitreoretinal degeneration family. METHODS: Clinical data were collected on 26 family members by history and examination. Thirteen of the 26 total family members underwent prospective examination. Linkage to known vitreoretinal degeneration loci (COL2A1, COL11A1, and the Wagner disease locus) was evaluated with short tandem repeat markers. MAIN OUTCOME MEASURES: Ocular and systemic features of known vitreoretinal degenerations. RESULTS: Six of the 13 prospectively examined subjects had snowflake vitreoretinal degeneration. Corneal guttae (4/5; 80%), early onset cataract (5/6; 83%), fibrillar vitreous degeneration (6/6; 100%), and peripheral retinal abnormalities (5/6; 83%), including minute crystallinelike deposits called snowflakes (4/6; 67%), were common. Retinal detachment was seen in 1 of 6 of these prospectively examined subjects (17%). A total of 14 affected subjects were identified within the family, and in 3 (21%), retinal detachment developed. Orofacial features, early-onset hearing loss, and arthritis typical of Stickler syndrome were absent. Linkage to known vitreoretinal degeneration loci was excluded. CONCLUSIONS: The absence of vitreous gel in the retrolental space and presence of fibrillar vitreous degeneration were consistent with the vitreous structure reported for collagen 11A1 (COL11A1) but not collagen 2A1 (COL2A1) mutations. The absence of systemic features was characteristic of the vitreoretinopathies linked to chromosome 5q13 (Wagner disease and erosive vitreoretinopathy) and mutations in exon 2 of the COL2A1 gene. Snowflakes in the peripheral retina and the absence of nyctalopia, posterior chorioretinal atrophy, and tractional retinal detachment were inconsistent with the chromosome 5q13 vitreoretinopathies. The association of Fuchs' corneal endothelial dystrophy found in this family has not been reported previously in other vitreoretinal degenerations. These findings and the exclusion of known genetic loci suggest snowflake is a distinct vitreoretinal degeneration. SN - 0161-6420 UR - https://www.unboundmedicine.com/medline/citation/14644728/Snowflake_vitreoretinal_degeneration:_follow_up_of_the_original_family_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0161-6420(03)00828-5 DB - PRIME DP - Unbound Medicine ER -