49, xxxxy syndrome with autoimmune diabetes and ocular manifestations

We report a rare case of 49,XXXXY syndrome with autoimmune diabetes [requiring insulin therapy], bilateral cataracts and unilateral glaucoma. A 25-year-old man with mental retardation presented with multiple skeletal abnormalities, polyuria and polydipsia. He had high glucose concentrations, without ketonuria, and hypergonadotropichypogonadism. Ophthalmic examination revealed a polar cataract in both eyes and increased intraocular pressure in the left eye. The anti-islet cell antibody test was positive, and antiglutamic acid decarboxylase autoantibody levels were elevated. Karyotype analysis revealed 49,XXXXY. Intensive insulin therapy and testosterone replacements were started. The autoimmune nature of diabetes that we observed in our patient seems to be predisposed by hypogonadism. Cataract and glaucoma in this case seem to be the result of diabetes, and an association of these ocular manifestations with the syndrome 49,XXXXY seems unlikely

High myopia associated with colour vision deficiency:a family report / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To evaluate genetic characteristics and clinical findings in a family with high myopia and colour vision deficiency (CVD).METHOD: Eight affected subjects of 42 members in four generations of the same family underwent a complete ophthalmic examination. Classical and computer adapted Ishihara Plates and Farnsworth-Munsell 100 Hue (FM100H)tests were used for determining the red-green CVD and full-field electroretinography (ERG) was performed to evaluate retinal function.RESULTS: Eight affected subjects had subnormal visual acuity due to high myopia. The results of colour vision tests were consistent with red-green CVD in six of these affected subjects. Fundus examination showed degenerative myopic changes characterized with generalized chorioretinal atrophy.Abnormal cone and rod dark-adaptation and diminished cone response in ERG were found in two subjects. According to family pedigree, it has been suggested that red-green CVD has X-linked recessive inheritance.CONCLUSION: The concurrence of high myopia with CVD in the members of this family may show a possible evidence for an associate genetic basis on different disorders.