Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome

Ophthalmology
Andrea Müllner-EidenböckLuba Vd Kalaydjieva

Abstract

To determine the nature and course of ophthalmologic abnormalities in congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome in a genetically verified group of 9 patients. Observational case series. Nine affected male individuals of 5 pedigrees aged 1.3 to 16.8 years were examined. Four individuals were recruited during an ongoing prospective study of congenital cataracts; 5 individuals could be assigned to the CCFDN group on the basis of our retrospective data. Linkage and haplotype analysis, neurologic examinations, bilateral cataracts, axial length, corneal diameter, pupil diameter and pupillary reactions, intraoperative and postoperative complications, lid changes, aphakic correction problems, refractive results, and visual function. All families originated from the eastern part of Serbia, close to the border with Romania. The 8 tested individuals were homozygous for the conserved ancestral CCFDN haplotype in the telomeric region of chromosome 18q. All patients showed a peripheral, demyelinating neuropathy and varying degrees of ataxia. In the older patients, muscular atrophy in distal muscles and facial dysmorphism was evident. Early-onset bilateral congenital cataracts associated with microcornea, microphthal...Continue Reading

References

Jan 1, 1978·American Journal of Medical Genetics·J T MartsolfJ C Haworth
Dec 21, 1991·Lancet·J U WaltherM Jensen
Jan 1, 1991·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·B Lorenz, J Wörle
Jan 1, 1990·Journal of Inherited Metabolic Disease·W Endres, Y S Shin
Oct 1, 1990·Journal of Medical Genetics·I R WalpoleA Nicoll
Nov 1, 1989·Archives of Ophthalmology·A H WeissJ Longbottom
Jan 1, 1983·European Neurology·M AlexianuC Savu
Jan 1, 1982·Pediatric Radiology·S L LinnaJ Laitinen
Oct 1, 1981·American Journal of Ophthalmology·W W Culbertson, H B Ostler
Sep 1, 1993·Pediatric Neurology·T IshikawaI Nonaka
Aug 1, 1993·Journal of Medical Genetics·M Warburg
Feb 1, 1996·Pediatric Neurology·T E WilliamsM D Sussman
May 1, 1996·Survey of Ophthalmology·S R Lambert, A V Drack
Jun 25, 1998·Neuropediatrics·W Müller-FelberU Walther
Jul 7, 2000·Journal of Medical Genetics·P J FrancisA T Moore
Sep 12, 2000·Human Genetics·W He, S Li
Oct 31, 2000·Ophthalmology·J E Boulton, T J Sullivan
Mar 10, 2001·Ophthalmology·J R AinsworthJ Chhina
May 30, 2001·Journal of Cataract and Refractive Surgery·A Müllner-EidenböckT Zidek
Oct 6, 2001·Current Opinion in Ophthalmology·I Gottlob
Dec 6, 2001·Ophthalmology·W P Mack

❮ Previous
Next ❯

Citations

Aug 31, 2006·Orphanet Journal of Rare Diseases·Luba Kalaydjieva
May 22, 2010·Ophthalmic Plastic and Reconstructive Surgery·Amy M Fowler, Jonathan J Dutton
Jan 26, 2010·Ophthalmology·Daniel G EzraRichard Collin
Oct 13, 2009·Survey of Ophthalmology·Daniel G EzraRichard Collin
Apr 3, 2012·Journal of the Peripheral Nervous System : JPNS·Eppie M Yiu, Monique M Ryan
Feb 1, 2017·European Journal of Anaesthesiology·Oliver W MastersKarl-Christian Thies

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.