ABSTRACT
Two cases of retinitis pigmentosa (RP) with associated sickle cell disease in one patient, and situs inversus totalis in the other are reported. To our best knowledge, these associations have never been reported in RP.
Subject(s)
Adolescent , Adult , Anemia, Sickle Cell/complications , Dextrocardia/complications , Diagnosis, Differential , Electrocardiography , Electroretinography , Erythrocyte Count , Humans , Male , Pedigree , Radiography, Thoracic , Retina/pathology , Retinitis Pigmentosa/complications , Situs Inversus/complications , Visual FieldsABSTRACT
The aim of the study is to screen patients for homocystinuria with and without cataract and analyse for homocystine and methionine. Fifty-eight samples from 29 patients, i.e., plasma and urine collected after overnight fasting were analysed by the screening test for homocystine, and paper chromatography for homocystine and methionine. Out of 29 homocystinuric patients, 24 had cataract. Only one had appreciable amounts of methionine in his serum. He also had mental retardation as expected and belongs to Type I. The other types did not have methionine but had only homocystine. There was no mental retardation or ectopia lentis. So they belonged to Types II, III or IV. As there is excess methionine in Type I, with low cystine, cataract may be due to deficiency of cysteine and reduced glutathione and might be averted by suitable therapy, i.e., high cystine-low methionine diet with B6. In other types with low methionine, cataract may be due to decreased availability of amino acids for the synthesis of lens proteins; the treatment of choice should be B12, and folate with methionine.
Subject(s)
Adult , Cataract/congenital , Child , Chromatography, Paper , Female , Homocystine/blood , Homocystinuria/classification , Humans , Male , Mass Screening , Metabolism, Inborn Errors/diagnosis , Methionine/blood , Pyridoxine/therapeutic useABSTRACT
One child in a family and two children in another family had galactosemia and congenital cataract. Two of them had total soft cataracts while in one, cataract was less soft. In addition, they had mild lactosuria. The mothers of the affected children had significant lactosuria and mild galactosuria without cataracts. Fathers did not have galactosuria or lactosuria. Clinically unaffected siblings in one family had mild galactosuria and lactosuria. Pregnancy-exaggerated galactosemia was suspected in these two mothers who gave birth to children with congenital cataract. As an extension of this work, 5001 pregnant women were screened for galactose in urine just before the delivery of babies. Mild galactosuria was present in 54 (1.08%). Three children had congenital cataract and one had changes in posterior pole and cornea. Restriction of lactose by reducing intake of milk and milk products during pregnancy by mothers with galactosuria is recommended to avoid the birth of children with congenital cataract.