ABSTRACT
The oculo-cerebro-renal syndrome of Lowe (OCRL) is a rare X-chromosomal disorder characterised by the triad of congenital cataracts, renal tubular dysfunction, and mental retardation. Typically complete opacification and discoid deformation of the lenses are seen, indicating a developmental defect in early embryogenesis. We report on a 35-year-old patient with a mild Lowe syndrome phenotype including incomplete lenticular opacities. Clinical findings suggest that the gene product of the mutated allele (IVS19 + 1G > A) identified in the patient exhibits some residual function.
Subject(s)
Cataract/diagnosis , Cataract/genetics , Oculocerebrorenal Syndrome/diagnosis , Oculocerebrorenal Syndrome/genetics , Phosphoric Monoester Hydrolases/genetics , RNA Splice Sites/genetics , Adult , Genetic Predisposition to Disease/genetics , Humans , Male , MutationABSTRACT
OBJECTIVE: Upper lid retraction associated with thyroid eye disease may result in conjunctival and corneal exposure as well as in an esthetic problem. We evaluated the effect of botulinum toxin injections in order to lower the upper lid. METHODS: This prospective study included 19 eyes of 13 female patients presenting with scleral exposure aged 28-50 years. We injected 5-15 IE botulinum toxin A (Botox) transconjunctivally into the levator muscle. Lid position, negative side effects, and patient satisfaction were evaluated. RESULTS: Lid retraction improved from 2.4 mm (+/-1.4 mm) prior to injection to 0.5 mm (+/-2.3 mm) 4 weeks after injection. In 11 of 19 eyes 4 weeks after injection and in 8 of 14 eyes 12 weeks after injection scleral exposure had resolved. Diplopia did not occur and tear production was not influenced. Two eyes had transient ptosis. Lid lag increased from 0.34 (+/-0.6 mm) to 0.84 mm (+/-0.9 mm). Of 13 patients, 8 were satisfied with the result. CONCLUSION: Botulinum toxin A injection provides effective treatment especially in mild lid retraction and as a temporary solution for patients with unstable thyroid disease.
Subject(s)
Botulinum Toxins/administration & dosage , Ectropion/drug therapy , Graves Disease/complications , Adult , Blepharoptosis/chemically induced , Blepharoptosis/diagnosis , Botulinum Toxins/adverse effects , Conjunctiva , Ectropion/diagnosis , Female , Follow-Up Studies , Humans , Injections , Male , Middle Aged , Patient Satisfaction , Recurrence , Treatment OutcomeSubject(s)
Glucocorticoids/therapeutic use , Methylprednisolone/therapeutic use , Ophthalmia, Sympathetic/drug therapy , Child , Dexamethasone/administration & dosage , Dexamethasone/therapeutic use , Drug Administration Routes , Drug Therapy, Combination , Eye Injuries, Penetrating/complications , Eye Injuries, Penetrating/surgery , Fluocortolone/administration & dosage , Fluocortolone/therapeutic use , Follow-Up Studies , Glucocorticoids/administration & dosage , Humans , Injections, Intravenous , Male , Methylprednisolone/administration & dosage , Ophthalmia, Sympathetic/etiology , Ophthalmia, Sympathetic/physiopathology , Visual AcuityABSTRACT
In a pilot study comprising 16 eyes of 16 patients with chronic open-angle glaucoma the tonographic outflow facility was examined before and after Nd-YAG laser treatment of the trabecular meshwork. For evaluation of the facility effect of laser trabeculoplasty, the tonographic record between the third and seventh minute according to the tonography test of Leydhecker was used. An improvement in outflow facility was established which correlated with the postoperative fall in IOP.
