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Ocular findings in Fryns syndrome.
Acta Ophthalmol Scand. 2000 Dec; 78(6):710-3.AO

Abstract

PURPOSE

To demonstrate the ocular histopathologic findings in Fryns syndrome, a multiple congenital anomaly syndrome, with characteristic features including Dandy-Walker malformation, cleft palate, diaphragmatic hernia, lung hypoplasia, distal limb anomalies and polyhydramnios. The prevalence is about 0.7 per 10,000 births. Reported ocular features include microphthalmus, "cloudy cornea", irregularities of Bowman's layer, thickened posterior lens capsule and retinal dysplasia.

METHODS

Case report. The ocular histopathologic and ultrastructural findings in a male fetus with Fryns syndrome who died immediately after his birth at 26th week of gestation are shown.

RESULTS

An abnormal Descemet's membrane was found in addition to "cloudy corneae". Electron microscopy demonstrated absence of the banded collagen fibrils in Descemet's membrane, indicating corneal endothelial dysfunction. Otherwise, the eye was morphologically normal for its age; none of the other reported ocular features of Fryns syndrome were found.

CONCLUSION

Corneal endothelial dysfunction might cause abnormal composition of anterior Descemet's membrane and could contribute to the "cloudy cornea" known to occur in Fryns syndrome.

Authors+Show Affiliations

Department of Ophthalmology, University Eye Hospital, Friedrich-Alexander-University Erlangen-Nürnberg, Germany. claus.cursiefen@augen.med.uni-erlangen.deNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

11167240

Citation

Cursiefen, C, et al. "Ocular Findings in Fryns Syndrome." Acta Ophthalmologica Scandinavica, vol. 78, no. 6, 2000, pp. 710-3.
Cursiefen C, Schlötzer-Schrehardt U, Holbach LM, et al. Ocular findings in Fryns syndrome. Acta Ophthalmol Scand. 2000;78(6):710-3.
Cursiefen, C., Schlötzer-Schrehardt, U., Holbach, L. M., Vieth, M., Kuchelmeister, K., & Stolte, M. (2000). Ocular findings in Fryns syndrome. Acta Ophthalmologica Scandinavica, 78(6), 710-3.
Cursiefen C, et al. Ocular Findings in Fryns Syndrome. Acta Ophthalmol Scand. 2000;78(6):710-3. PubMed PMID: 11167240.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ocular findings in Fryns syndrome. AU - Cursiefen,C, AU - Schlötzer-Schrehardt,U, AU - Holbach,L M, AU - Vieth,M, AU - Kuchelmeister,K, AU - Stolte,M, PY - 2001/2/13/pubmed PY - 2001/3/7/medline PY - 2001/2/13/entrez SP - 710 EP - 3 JF - Acta ophthalmologica Scandinavica JO - Acta Ophthalmol Scand VL - 78 IS - 6 N2 - PURPOSE: To demonstrate the ocular histopathologic findings in Fryns syndrome, a multiple congenital anomaly syndrome, with characteristic features including Dandy-Walker malformation, cleft palate, diaphragmatic hernia, lung hypoplasia, distal limb anomalies and polyhydramnios. The prevalence is about 0.7 per 10,000 births. Reported ocular features include microphthalmus, "cloudy cornea", irregularities of Bowman's layer, thickened posterior lens capsule and retinal dysplasia. METHODS: Case report. The ocular histopathologic and ultrastructural findings in a male fetus with Fryns syndrome who died immediately after his birth at 26th week of gestation are shown. RESULTS: An abnormal Descemet's membrane was found in addition to "cloudy corneae". Electron microscopy demonstrated absence of the banded collagen fibrils in Descemet's membrane, indicating corneal endothelial dysfunction. Otherwise, the eye was morphologically normal for its age; none of the other reported ocular features of Fryns syndrome were found. CONCLUSION: Corneal endothelial dysfunction might cause abnormal composition of anterior Descemet's membrane and could contribute to the "cloudy cornea" known to occur in Fryns syndrome. SN - 1395-3907 UR - https://www.unboundmedicine.com/medline/citation/11167240/Ocular_findings_in_Fryns_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=1395-3907&date=2000&volume=78&issue=6&spage=710 DB - PRIME DP - Unbound Medicine ER -