1/10. Bilateral anterior lenticonus: Scheimpflug imaging system documentation and ultrastructural confirmation of Alport syndrome in the lens capsule.BACKGROUND: Alport syndrome is a combination of proteinuria, hematuria, and neurosensory high-frequency deafness. Bilateral anterior lenticonus may be a late sign. Diagnosis relies on characteristic electron microscopy changes of glomerular basement membranes in renal biopsy specimens. PATIENT: A 38-year-old man was seen for progressive visual acuity loss (20/400 OU; best-corrected visual acuity, 20/60 OD and 20/50 OS). Findings from slitlamp examination included bilateral anterior lenticonus and central posterior subcapsular cataract, documented using a modified Scheimpflug imaging system. Retinal pathology was not present. On detailed questioning, a history of microhematuria and proteinuria since childhood and progressive high-frequency deafness for years were discovered. The family history was negative for nephropathies, deafness, or eye diseases. cataract extraction rehabilitated the patient's vision. RESULTS: Electron microscopy of a fragile capsulorhexis specimen showed typical thinned basal lamina with basement membrane disruptions. CONCLUSIONS: Anterior lenticonus is a rare bilateral progressive developmental anomaly. More than 90% of cases are associated with Alport syndrome. For diagnosis of Alport syndrome, the presence of 3 of 4 criteria is required: family history positive for Alport syndrome, progressive intra-auricular deafness, characteristic eye anomalies, and positive findings from glomerular ultrastructural examination. We believe that ultrastructural proof of anterior lenticonus may also be provided in the lens capsule. Arch Ophthalmol. 2000;118:895-897- - - - - - - - - - ranking = 1keywords = family (Clic here for more details about this article) |
2/10. Chronic angle closure glaucoma secondary to frail zonular fibres and spherophakia.PURPOSE: We describe a 39-year-old Japanese woman with chronic angle closure glaucoma secondary to spherophakia and frail zonular fibres. The patient was 143 cm in height with short fingers and had no family history of eye problems. High intraocular pressure, total optic disc cupping and severe visual field constriction were found in the right eye. methods: The patient was treated successfully with trabeculectomy in the right eye and laser iridotomy in the left eye. CONCLUSION: The clinical findings imply that this was a borderline case of Weil-Marchesani syndrome.- - - - - - - - - - ranking = 0.5keywords = family (Clic here for more details about this article) |
3/10. Long anterior lens zonules in late-onset retinal degeneration (L-ORD).PURPOSE: We report new findings of peripupillary iris atrophy and long anteriorly-inserted zonules in a family with late-onset retinal degeneration (L-ORD). DESIGN: The proband was noted to have anterior segment findings not previously described in L-ORD, an autosomal dominant condition resulting in severe visual impairment. A mutation in the C1QTNF5 (CTRP5) gene is causal. We identified family members with anterior segment findings. methods: family members were examined with slit-lamp biomicroscopy and psychophysical tests including dark adaptation and visual fields. genetic testing for the C1QTNF5 mutation was carried out. RESULTS: In this family with a proven mutation in this gene, peripupillary iris atrophy and abnormally long anterior zonular insertions were present before retinal changes and visual loss. CONCLUSIONS: Anterior segment findings have not previously been reported and along with impaired dark adaptation may serve as an early marker for this condition thus facilitating counseling and possible therapeutic intervention.- - - - - - - - - - ranking = 1.5351814615521keywords = family, member (Clic here for more details about this article) |
4/10. Diagnosis and management of bilateral posterior lenticonus in 7 members of the same family.PURPOSE: To report on the occurrence of monosymptomatic bilateral posterior lenticonus in 7 members of the same family and discuss the diagnoses and methods of management. SETTING: Eye Clinic, Cantonal Hospital, Lucerne, switzerland. methods: Two sisters were found to suffer from bilateral posterior lenticonus. The 3 sons of the elder sister and the 2 daughters of the younger sister all presented with bilateral posterior lenticonus. A cataract operation or a clear lens extraction with intraocular lens implantation was performed in 4 of the 7 patients. RESULTS: The disorder was found to be inherited and to follow a pattern of autosomal dominance. visual acuity improved to 20/20 in all operated eyes. CONCLUSION: This may be the largest group in 1 family presenting with bilateral posterior lenticonus described to date. Treatment of posterior lenticonus, if necessary, can be successfully managed as an ordinary cataract.- - - - - - - - - - ranking = 3.0879536538803keywords = family, member (Clic here for more details about this article) |
5/10. Polychromasia capsulare (multicolored capsule): report of three families.PURPOSE: To describe the familial occurrence of a peripheral ring of anterior lens capsule discoloration and iridescence in three families. methods: Clinical ophthalmologic examination with visual acuity, slit-lamp biomicroscopy, and dilated ophthalmoscopy. pedigree construction and evaluation for possible mode(s) of inheritance. RESULTS: In family 1, 25 members from four generations were available for examination. Twelve had identical findings consisting of a peripheral circumferential polychromatic band of anterior lens capsule. The band was predominantly iridescent green but exhibited a rainbow of colors on direct illumination with the slit-lamp beam. There were affected individuals in all four generations. The proband, one of her sons, and her granddaughter had no clinical, serologic, or other laboratory evidence of Wilson's disease, hypercupremia, or myotonic dystrophy. In family 2, three individuals in three generations were similarly affected. In family 3, a man and his son and daughter had identical peripheral lens capsule discoloration. CONCLUSIONS: Polychromasia capsulare is a rare benign autosomal dominant ocular trait that does not appear to be associated with ophthalmologic or systemic disease. The occurrence in consecutive generations and the presence of male-to-male transmission are consistent with autosomal dominant inheritance.- - - - - - - - - - ranking = 1.5175907307761keywords = family, member (Clic here for more details about this article) |
6/10. tuberous sclerosis. Diagnostic problems in a family.This paper describes a family in which the first child, a girl born in 1988, has tuberous sclerosis (TS). The 28-year-old mother had no symptoms of TS but at ocular examination she presented with progressively increasing prominence of the optic nerve heads with a few glistening spots due to deep and superficial drusen, and tilted disks. visual fields showed enlarged blind spots. fluorescein angiography showed lobular drusen of the optic nerve heads. The ERG showed an absent B-wave. The family history was negative for TS. The question arises whether these ocular findings have to be interpreted as part of the syndrome of TS. In that case the recurrence risk for the disease is 50% for each next child. Assuming a spontaneous mutation in the first child, however, the risk can be nearly neglected. Until the genetic defect in TS is found, these problems in genetic counselling of parents with a child with TS will remain unsolved. prenatal diagnosis by dna-analysis is not yet possible; however a few cases of TS have been diagnosed prenatally by fetal ultrasonography of the heart, as was the case in the affected child.- - - - - - - - - - ranking = 3keywords = family (Clic here for more details about this article) |
7/10. Nanophthalmos in sisters, one with exfoliation syndrome.In a consanguineous family of two siblings, both with nanophthalmos, one was found to also have bilateral exfoliation syndrome. This combination of conditions has not, to our knowledge, previously been reported and has not had any apparent negative consequences. Her sister has manifested typical complications of nanophthalmos, including angle-closure glaucoma initially and, eventually, severe uveal effusion after cataract surgery.- - - - - - - - - - ranking = 0.5keywords = family (Clic here for more details about this article) |
8/10. Hereditary ocular dysproteinhydria of the aqueous humour with crystalline deposits.We describe a family with coloured crystalline deposits on the corneal endothelium and on the lens surface. A protein with a molecular weight of about 110,000 and an isoelectric point of 7-8 could be demonstrated in the aqueous humour, which was not found in the controls or in the serum of the family members. The pedigree is suggestive of autosomal dominant inheritance. To our knowledge this is the first report of this entity.- - - - - - - - - - ranking = 1.0175907307761keywords = family, member (Clic here for more details about this article) |
9/10. Familial bilateral posterior lenticonus.Posterior lenticonus usually occurs sporadically and only in one eye. However, in three families bilateral posterior lenticonus occurred in more than one member. When the defect appears bilaterally, genetic counseling should be considered to educate the family about the possibility that future offspring might have this disorder.- - - - - - - - - - ranking = 0.51759073077607keywords = family, member (Clic here for more details about this article) |
10/10. Acquired posterior lentiglobus.PURPOSE/methods: An infant examined by three ophthalmologists was found to have unilateral posterior lentiglobus, which subsequently developed bilaterally by 15 weeks of age. RESULTS/CONCLUSIONS: The onset of posterior lentiglobus may be congenital or acquired. Infants with unilateral cataracts whose family history indicates early-onset lens opacities require careful and frequent examinations of the fellow eye.- - - - - - - - - - ranking = 0.5keywords = family (Clic here for more details about this article) |
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