ABSTRACT
We present here extensive clinical and biochemical data on thirteen SLOS (type I) patients with proven defect in cholesterol biosynthesis for further delineation of the classical SLOS phenotype at different patient ages.
Subject(s)
Aging/pathology , Smith-Lemli-Opitz Syndrome/metabolism , Smith-Lemli-Opitz Syndrome/pathology , Aging/metabolism , Anthropometry , Cholesterol/biosynthesis , Female , Humans , Male , Phenotype , Smith-Lemli-Opitz Syndrome/physiopathologySubject(s)
Medicine , Ophthalmology , Pediatrics , Specialization , Child , Eye Diseases/diagnosis , Eye Diseases/therapy , Humans , PolandABSTRACT
The authors discussed ocular changes observed in 100 children with tuberous sclerosis. Retinal tumors, typical of this disease, were found in 19 patients (19%). This incidence was higher in older children. Three types of tumors were observed: a) flat or slightly elevated, indistinct, salmon-grey colour, b) whitish-yellow, mulberry-like, located in disc area, c) mixed or intermediate. The authors observed 4 stages of tumors' development: changes in distribution of pigment in retina, arising of semitranslucent, salmon-grey tumors, mineralization of tumors-so called intermediate type, mulberry-like type. Progress from one stage to the next one is slow.
Subject(s)
Eye Neoplasms/etiology , Retinal Diseases/etiology , Tuberous Sclerosis/complications , Adolescent , Child , Child, Preschool , Eye Neoplasms/pathology , Female , Humans , Infant , Male , Neoplasm Staging , Retinal Diseases/pathologyABSTRACT
The authors presented long-term results of surgery of congenital, residual, traumatic and post-inflammatory cataracts. Lensectomy through pars plana was performed in all eyes. Examination after 12-year follow-up was performed in 186 eyes, i.e.-69.4% of the total number of 268 eyes which underwent surgery. The most frequent complication was glaucoma (33.3%), which passed without any symptoms and was diagnosed accidentally, in the majority of cases in the period over 3 years after surgery. Other complications were rare; They included retinal detachment in 0.5% of the eyes. Visual acuity was 5/50 and less in 52.7% of the eyes; only in 10% it was 5/10 and better. The conclusion is that all patients after cataract surgery should be examined for glaucoma.
Subject(s)
Cataract Extraction , Glaucoma/etiology , Postoperative Complications , Cataract/congenital , Cataract/etiology , Cataract Extraction/adverse effects , Child , Eye Infections/complications , Eye Injuries/complications , Follow-Up Studies , Humans , Retinal Detachment/etiology , Treatment Outcome , Visual AcuityABSTRACT
The investigations concerned 385 children with a congenital cataract. It was not possible to establish the causes of the condition in 46.5 p.c. of examined children. The set of examinations which was used was sufficient for an explicit determination of the cause of the metabolic part of congenital cataracts. In galactosaemia opacification of the lens appeared in 64 p.c. of cases, in hypofunction of the parathyroids in 17.8 p.c., in hypoglycaemia in 6.6 p.c., in Lowe's syndrome in 100 p.c. of cases.
Subject(s)
Cataract/etiology , Galactosemias/complications , Hypoparathyroidism/complications , Oculocerebrorenal Syndrome/complications , Cataract/congenital , Cataract/epidemiology , Child , Humans , Poland/epidemiology , Urban PopulationABSTRACT
Coexistence of Toxoplasma gondii and Cytomegalovirus infection in 3 dystrophic newborns is discussed. Also the not very characteristic course of the infection is stressed.
