Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.

BACKGROUND: Transaldolase deficiency (TALDO-D) is a rare autosomal recessive inborn error of the pentose phosphate pathway. Since its first description in 2001, several case reports have been published, but there has been no comprehensive overview of phenotype, genotype, and phenotype-genotype correlation. METHODS: We performed a retrospective questionnaire and literature study of clinical, biochemical, and molecular data of 34 patients from 25 families with proven TALDO-D. In some patients, endocrine abnormalities have been found. To further evaluate these abnormalities, we performed biochemical investigations on blood of 14 patients. RESULTS AND CONCLUSIONS: Most patients (n = 22) had an early-onset presentation (prenatally or before 1 month of age); 12 patients had a late-onset presentation (3 months to 9 years). Main presenting symptoms were intrauterine growth restriction, dysmorphic facial features, congenital heart disease, anemia, thrombocytopenia, and hepato(spleno)megaly. An older sib of two affected patients was asymptomatic until the age of 9 years, and only after molecular diagnosis was hepatomegaly noted. In some patients, there was gonadal dysfunction with low levels of testosterone and secondary luteinizing hormone (LH) and follicle-stimulating hormone (FSH) abnormalities later in life. This overview provides information that can be helpful for managing patients and counseling families regarding prognosis. Diagnostic guidelines, possible genotype-phenotype correlations, treatment options, and pathophysiological disease mechanisms are proposed.

Profile and management outcomes of glaucoma cases at Qassim University Hospital.

OBJECTIVE: In view of the paucity of community-based data about glaucoma in Saudi Arabia, better planning to address visual disabilities due to glaucoma is a challenge. Providing hospital-based data from semi-urban places will complement the picture based on information of tertiary eye hospitals of capital. METHODS: This is one-armed cohort study. All patients attending glaucoma subspecialty unit at our university hospital during 2014-2015 were evaluated for their demographic details, ocular status at presentation, management modalities, and follow-up status of treated eyes. The qualified and absolute success rates (intraocular pressure <22 mmHg with/without medication) were estimated. The determinants of success were analyzed. RESULTS: We assessed 219 eyes of 122 patients of glaucoma patients. Bilateral glaucoma was in 97 (79.7%) patients. Primary chronic angle closure glaucoma in 102 (46.6%) eyes and primary open angle glaucoma (POAG) in 56 (25.6%) were the main types of glaucoma. More than half of the eyes with glaucoma had a normal functional vision, while 9.2% had vision <20/400. At presentation, 133 (60.7%) had undergone surgical procedure including laser iridotomy. At last follow-up, 135 (62%) of glaucomatous eyes were not using glaucoma medications. The decline in a number of glaucoma medications at last follow-up compared to 1st visit was statistically significant (P < 0.001). CONCLUSIONS: At tertiary eye center of semi-urban area of Saudi Arabia had primary chronic angle-closure glaucoma (PCACG) as the main type of adult glaucoma. Vision does not seem to understand the severity of glaucoma at presentation. POAG cases were medically managed while PCACG cases were managed both with laser and surgeries.