Purpose: To examine the data on outcome of surgery performed over a wide age range in members of a family affected by familial infantile bilateral partial cataract, with the purpose of assessing their predictive value concerning the timing of surgery.
Methods: A retrospective clinical study was carried out of a family with dominant inheritance of familial infantile bilateral partial cataract. The family spanned four generations and consisted of 53 members, 31 of whom were examined in our department. Of these, 18 were affected. Cataract surgery was performed in 26 eyes of 15 patients, whose ages ranged from 6 to 58 years at the time of operation. As the surgical procedures spanned the years from 1978 to 1996, different techniques were used.
Results: In 24 eyes (92%) the post-operative visual acuity was 6/9 or better. One eye achieved 6/12 and another 6/15.
Conclusions: In this particular family there was no relationship between the post-operative visual acuity and the age at which surgery was performed. In deciding when to operate on family members with infantile bilateral partial cataract with similar morphology, in addition to the commonly used criteria the family data should also be taken into account. In infants and young children, delaying surgery may allow better development of visual acuity aided by accommodation, stabilisation of binocularity and more precise determination of the power of an intraocular lens. Success of very early surgery in such cases may not be attributable to the timing of the operation.
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http://dx.doi.org/10.1038/eye.1999.139 | DOI Listing |
J Clin Invest
January 2025
Department of Pharmacology, University of Michigan Medical School, Ann Arbor, United States of America.
Dravet syndrome (DS) is a developmental and epileptic encephalopathy (DEE) that begins in the first year of life. While most cases of DS are caused by variants in SCN1A, variants in SCN1B, encoding voltage-gated sodium channel β1 subunits, are also linked to DS or to the more severe early infantile DEE. Both disorders fall under the OMIM term DEE52.
View Article and Find Full Text PDFPediatr Allergy Immunol Pulmonol
January 2025
Clinical Immunology Unit, Faculty of Medicine and Health Sciences, Department of Paediatrics, Universiti Putra Malaysia, Selangor, Malaysia.
: RAS guanyl-releasing protein 1 (RASGRP1) deficiency is characterized by immune dysregulation and Epstein-Barr virus (EBV)-related lymphoproliferation. Diffuse mesangial sclerosis is one of the infrequent causes of infantile nephrotic syndrome. : Here, we described a 7-year-old girl who was diagnosed with diffuse mesangial sclerosis at 5 months old and subsequently developed chronic bilateral neck swelling at the age of 3 years.
View Article and Find Full Text PDFEur J Neurol
January 2025
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.
Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.
Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.
Mol Syndromol
December 2024
Department of Radiology, Kartal Dr. Lutfi Kirdar City Hospital, University of Health Sciences, Istanbul, Turkey.
Introduction: Pathogenic variants in several genes encoding components of the mitochondrial respiratory chain have been linked to various clinical phenotypes such as progressive cavitating leukoencephalopathy (PCL). The association between PCL, previously linked to numerous gene mutations in the literature, and the gene mutations has emerged as a recent and noteworthy discovery. PCL is generally diagnosed in symptomatic patients during the early years of life, mostly in infancy.
View Article and Find Full Text PDFJ Pediatr Ophthalmol Strabismus
November 2024
This is a case report of a female infant with two rare pathogenic chromosomal abnormalities: partial trisomy of chromosome 3 (3q25.2 to 3q29) and partial monosomy of chromosome 4 (4q34.1 to 4q35.
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