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 1, 1992·Neuropediatrics·C ZimmerJ M Schröder
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
Aug 1, 1987·Neuropediatrics·R HervaV Dubowitz
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
Jan 1, 1994·Ophthalmology·P A NetlandJ W Shore
Mar 1, 1993·Ophthalmic Paediatrics and Genetics·M T DottiG C Guazzi
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
Jun 9, 1999·Annals of Neurology·I TournevP K Thomas
Aug 10, 1999·European Journal of Human Genetics : EJHG·D AngelichevaL Kalaydjieva
Aug 12, 1999·Acta Neuropathologica·I TournevP K Thomas
Jul 7, 2000·Journal of Medical Genetics·P J FrancisA T Moore
Jul 13, 2000·Acta Neurologica Scandinavica·I YamashitaK Tashiro
Jul 25, 2000·Survey of Ophthalmology·L CassidyC Harris
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
Jan 24, 2002·Neurology·L MerliniL Kalaydjieva
Nov 5, 2002·Journal of Medical Genetics·C Lagier-TourenneH Dollfus
Mar 22, 2003·Journal of Cataract and Refractive Surgery·Andrea Müllner-EidenböckThomas Zidek
Oct 1, 2003·Nature Genetics·Raymonda VaronLuba Kalaydjieva
Jan 1, 1950·Confinia Neurologica·T SJOGREN
Citations
Aug 31, 2006·Orphanet Journal of Rare Diseases·Luba Kalaydjieva
Apr 3, 2014·Orphanet Journal of Rare Diseases·Petra LassuthovaPavel Seeman
May 22, 2010·Ophthalmic Plastic and Reconstructive Surgery·Amy M Fowler, Jonathan J Dutton
Nov 14, 2015·Neuromuscular Disorders : NMD·Ivailo Tournev
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
Jan 11, 2005·Neuromuscular Disorders : NMD·Luba KalaydjievaLuciano Merlini
Jun 11, 2015·Behavioural Neurology·Teodora ChamovaIvailo Tournev
Feb 1, 2017·European Journal of Anaesthesiology·Oliver W MastersKarl-Christian Thies