Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence.

We report on an adult male with normal intelligence who exhibited an unusual combination of microcephaly, dysostoses of limbs, vertebrae, patellae, and pubic bone, camptodactyly of all fingers, and syndactyly of toes, absent nails on thumbs and some fingers, bilateral cataract, cryptorchidism, polythelia, and nipple-like skin pigmentations of shoulders and upper back. We have been unable to find a description of a similar combination of manifestations in literature. The cause of the anomalies remains unknown.

TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies.

OBJECTIVES: The purpose of our study was to describe the results of molecular screening of TGFBI, CHST6, and GSN genes in a group of Mexican patients with different stromal corneal dystrophies (CD). MATERIAL AND METHODS: A total of 16 CD Mexican patients pertaining to nine different pedigrees were subjected to a complete ophthalmological investigation. A clinical diagnosis of lattice CD was performed in 10 patients from five pedigrees. Three patients from two pedigrees were diagnosed with granular CD type 2, two patients with unrelated probands had Finnish-type corneal amyloidosis, and one patient had macular CD. Genetic analysis included DNA isolation from blood leukocytes and polymerase chain reaction (PCR) amplification and direct nucleotide sequencing of TGFBI, CHST6, and GSN genes. RESULTS: Seven lattice CD patients from four unrelated families had an identical p.H626R mutation in TGFBI, three patients from a single lattice CD family carried a p.R124C substitution in TGFBI, and a granular type 2 CD pedigree was demonstrated to carry a heterozygous TGFBI p.M619K substitution. A patient having Finnish-type corneal amyloidosis had a p.D187N mutation in GSN. Finally, molecular analysis of CHST6 in a patient with macular CD disclosed the presence of a homozygous p.Y110C change. CONCLUSIONS: This study improves the knowledge of the genetic features of Mexican patients with corneal stromal dystrophies by identifying mutations in the TGFBI, CHST6, and GSN genes. Genetic screening of larger samples of patients from distinct ethnic groups would be of great importance for a better understanding of the mutational spectrum of stromal CD.

Acute Angle Closure Following Implantable Collamer Lens for Myopia.

We report a case of acute angle closure with significantly elevated intraocular pressure 9 hours after implantation of a phakic intraocular lens for high myopia.

Comparison of trabeculectomy versus Ex-PRESS: 3-year follow-up.

AIMS: To compare the outcomes of Ex-PRESS versus trabeculectomy at 3 years. METHODS: Consenting patients aged 18-85 years with medically uncontrolled open-angle glaucoma scheduled for trabeculectomy were included in this study. 63 subjects were randomised to undergo Ex-PRESS (32) or trabeculectomy (31). Follow-up data included intraocular pressure (IOP), glaucoma medications, visual acuity (VA), complications and additional interventions. Complete success was defined as IOP between 5 and 18 mm Hg and 20% reduction from baseline without glaucoma medications, while qualified success was with or without glaucoma medications. RESULTS: Complete success at 2 and 3 years was 43% vs 42% (p=0.78) and 35% vs 38% (p=0.92) in Ex-PRESS versus trabeculectomy, respectively. Qualified success at 2 and 3 years was 59% vs 76% (p=0.20) and 52% vs 61% (p=0.43) in Ex-PRESS versus trabeculectomy, respectively. Mean IOP at 2 and 3 years was 12.5±5.1 mm Hg vs 10.3±3.7 mm Hg (p=0.07) and 13.3±4.5 mm Hg vs 11.1±4.4 mm Hg (p=0.10) for Ex-PRESS versus trabeculectomy, respectively. At 3 years, 47.6% of Ex-PRESS and 50% of trabeculectomy patients were on glaucoma medications (p=1.00). No difference in VA was found after 3 years (logarithm of minimum angle of resolution 0.43±0.4 vs 0.72±0.8 for Ex-PRESS vs trabeculectomy, p=0.11). When excluding patients who underwent reoperation VA was better in the Ex-PRESS group at 1, 2 and 3 years. There were no complications after the first year in either group. CONCLUSIONS: We found no difference in success rates, mean IOP or other secondary outcomes between Ex-PRESS and trabeculectomy after 3 years of follow-up. TRIAL REGISTRATION NUMBER: NCT01263561; post results.

Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients.

OBJECTIVE: Wolfram syndrome (WS) is a severe autosomal recessive pleiotropic disease primarily characterized by the association of juvenile-onset diabetes mellitus and optic atrophy. Earlier reports have shown that a proportion of WS cases may remain unrecognized due to misdiagnosis as type 1 diabetes mellitus (T1DM). The objectives of this work were to estimate the prevalence of patients fulfilling clinical criteria for WS in a cohort of subjects diagnosed as T1DM and to identify causal WFS1 gene mutations in those individuals meeting clinical criteria for the disease. METHODS: A cohort of 131 unrelated Mexican T1DM patients was collected, including 77 females and 54 males. Additional clinical anomalies suggesting WS were identified through review of medical files, detailed physical examination and/or specialized tests. WFS1 gene analysis was performed using exon-by-exon PCR amplification and direct Sanger sequencing on genomic DNA from patients reaching WS clinical criteria. RESULTS: Clinical criteria for a WS diagnosis were reached in 6 probands, corresponding to a 4.58% frequency of the disease. WFS1 mutations were identified in 4 out of 5 (80%) individuals fulfilling WS clinical criteria, including two homozygous, one compound heterozygous, and one patient with a single allele mutation. No WFS1 mutations were identified in the remaining subject. CONCLUSIONS: In our cohort, approximately 6% of cases diagnosed as T1DM were in fact patients with Wolfram syndrome. WFS1 mutations were identified in 4 out of 5 individuals (80%) fulfilling clinical criteria for WS. Clinical and genetic analyses of large cohorts of T1DM patients from different ethnic origins would help to better estimate the occurrence of WS and will lead to a better management of such patients.