[Iris nodules, ocular findings and blood grouping in neurofibromatosis].

Through the analyses of 22 cases of neurofibromatosis (NF) patient ranging from 3 months to 63 yrs. old. We found that 4 cases had bilateral hearing loss and 2 of them were excluded from acoustic neuroma. The ocular appearance showed lid neurofibroma in 12 cases, orbital bone abnormalities in 4 cases, iris nodules in 20 cases (90%), congenital glaucoma (4 eyes) in 3 cases which showed abnormal gonioscopy in 3 eyes, lens opacity in 2 cases, mild and moderate myopia in 8 eyes, and high myopia in 7 eyes, occupying 16% of the total. 11 cases belong to 5 pedigrees showing autosomal dominant inheritance. The ABO and MN blood grouping of the NF cases and families in the pedigree showed that NF was more related to ABO than MN blood group. The ocular appearance, especially the shape and number of iris nodules in relation to age and diagnosis is discussed. The significance of 1 case of retinitis pigmentosa, 7 cases of high myopia in relation with NF should be further studied.

Humoral and cellular immune responses to lens protein in patients with congenital cataract.

In order to understand the immune responses to lens protein in patients with congenital cataract, the passive hemagglutination assay for humoral immunity and the leukocyte migration test for cellular immunity to lens protein were performed on 43 patients with congenital cataract and 30 healthy persons served as control. The results showed that there was no significant difference in the incidence of humoral immune responses to lens protein between patients with congenital cataract and the controls (P greater than 0.05), but the incidence of cellular immune responses to lens protein in patients with congenital cataract was higher than that of the controls (P less than 0.005). The results of this study suggested that during the development of congenital cataract, lens protein leaked into the aqueous humour and entered the systemic circulation, sensitizing lymphocytes and producing cellular mediated immune responses. Further investigation is necessary to determine whether there is any relationship between the immune responses to lens protein and the formation of congenital cataract.

Points that merit consideration in the diagnosis of retinoblastoma.

According to the clinical appearances and the characteristics of the onset of 86 Rb cases, some points in the diagnosis merit consideration: 1) Since the average symptomatic age was 21.75 months and the mean diagnostic age was 24.32 months, children under 3 years with leukocoria should be carefully examined, while adult Rb should not be neglected. 2) The primary symptom of Rb is mostly leukocoria, but Rb eyes without any symptoms or leukocoria (26 out of 105 eyes in our groups) might also be encountered. 3) 4 out of the 86 cases were retinocytoma which is supposed to be a type of Rb degeneration or benign Rb. 4) Attention should be paid to abnormalities and second primary tumors in Rb patients. 5) The pedigree investigations, twin method and laboratory studies in Rb such as chromosome analysis, EsD, LDH measurement and RFLP technique are useful in the prenatal diagnosis, early diagnosis and the diagnosis of the carriers.

The ocular findings in glucose-6-phosphate dehydrogenase deficiency.

57 cases with G6PD deficiency and 62 with normal G6PD activities as controls in Chonghua County, Guangdong Province were examined in the respects of visual acuity, color vision, corneal sensitivity, lens, vitreous and fundus. The results showed that the incidences of congenital lenticular opacities and congenital color blindness in G6PD deficiency group were higher than those in the controls. However, there were no findings such as pale conjunctiva, sallow sclera, pallor papillae and macular edema, which could be seen frequently in patients with favism. The hemoglobin values of all the cases were within normal range, which indicated that the subjects with G6PD deficiency usually didn't manifest hemolysis but only had a hereditary susceptibility, and the ocular findings in favism might result from hemolytic anemia, tissue anoxia and unknown toxic substances from vicia faba.

Ocular survey of deaf-mute children.

Through routine ocular examination of 279 Deaf-mute students in Lie De School in Guangzhou in 1988 by visual chart, Yu Zi Ping Pseudoisochromatic plate, portable slit lamp and direct ophthalmoscope, 100 persons (35.8%) were found to have ocular defects in one or both eyes. The incidence of ocular defects was higher than that of the normal populations. Among the ocular abnormalities, fundus defects occupied 28.6%, error of refraction, 17.9%. 17.9% of the eyes had the vision lower than 1.0 and the error of refraction was the main cause. Cases of hereditary syndromes were found: Usher syndrome, 2 cases; Goldenhar syndromes, 2 cases (brother and sister); Waardenburg syndrome, 1 case; von Recklinghausen's syndrome, 1 case. In comparing with the other articles, the ocular defect, visual disturbance, error of refraction, way of examination as well as types and characteristics of some syndromes were briefly discussed. The importance of special examinations for diagnosis, early correction of refractive error, avoidance of consanguineal marriage among deaf-mutes were emphasized.

Lymphocyte chromosome survey in 80 patients with retinoblastoma.

Cytogenetic analysis of eight cases of retinoblastoma patients was carried out to determine the occurrence of chromosome aberrations and to identify consistently associated clinical abnormalities. Among the 80 cases, 55 cases were unilateral, 25 cases were bilateral, seventy patients had a positive family history of Rb in 10 families. Normal chromosomes were found in 70 patients. Ten patients showed abnormal karyotypes: two cases of 13q deletion, one case of mosaicism of 13q deletion, one case of translocation between chromosomes 13 and 15 with the interstitial deletion of 13q, one case of 47, xxy, three cases of pericentric inversion of heteromorphic region of chromosome 9, two cases of pericentric inversion of chromosome Y. The patient who had the translocation between 13 and 5 with 13q deletion was found to have the characteristic midfacial appearance associated with 13q-deletion syndrome.

Pseudoexfoliation syndrome in Chinese.

The exfoliation syndrome is thought to be a very rare disease in China. The clinical features of 11 patients with pseudoexfoliation (PE) and the histopathologic changes in specimens affected by PE were studied. The loss of pigment at the pupillary ruff and the dense pigmentation on the trabecular meshwork were the early signs in the PE patients. Light and electron microscopic studies demonstrated that the PE materials were deposited on multiple sites in the anterior segment of the eye. To the best of the authors' knowledge, this is the first paper on the PE syndrome from China.