Epibulbar Dermoid Cyst in a Patient with VACTERL Association

The VACTERL association is an association of multiple congenital malformationsSuch as vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities in which the rate and number of the characteristic anomalies varies according to the population.We present a case of VACTERL association who was referred with a nodular dermoid cyst in her left eye since birth. Dermoid cysts as a part of Goldenhar’s syndrome and the VACTERL association have been reported very rarely; however there have been a few reports of children having the VACTERL association and orbital dermoid.  This shows the possibility of finding orbital dermoid cysts in the context of VACTERL association and demonstrates that such cysts could be a surrogate for feasible diagnosis of VACTERL association. Nonetheless, additional findings of an ipsilateral orbital dermoid cyst should stimulate serious discussion concerning the pathophysiology and etiology of this complex disorder.

Long-term Outcome of Limbal Stem Cell Transplantation for Management of Total Limbal Stem Cell Deficiency due to Chemical Burn

 Purpose: To evaluate the long-term outcome of limbal stem cell transplantation for management of total limbal stem cell deficiency due to chemical burn. Patients and Methods: In this retrospective cross sectional study; records of patients with history of severe (grade III to IV) chemical burns who underwent limbal stem cell transplantation in Labbafinejad Medical Center, Tehran, Iran between 2006 and 2016 were reviewed and data including demographic characteristics, visual acuity, surgical interventions and outcomes were reported. Results: Fifty eyes of fifty patients with a history of conjunctival limbal autograft (N = 24) or keratolimbal allograft (N = 26) with at least 12-months follow-up were included. The overall 1-year and 5-year survival was 100 % and 84.1 % for conjunctival limbal autograft and 80.4 % and 40 % for keratolimbal allograft, respectively (P = 0.037). Corneal transplantation was performed after limbal stem cell transplantation in 20 eyes after conjunctival limbal autograft and 25 eyes after keratolimbal allograft. The 1-year and 5-year corneal graft survival was 93.3 % and 63.8 % after conjunctival limbal autograft and 92 % and 38.4 % after keratolimbal allograft (P = 0.005 for five year survival). There was a significant improvement in LogMAR BCVA (1.79 versus 2.17, P < 0.001) in all patients with no statistically significant difference between the two groups. Conclusion: Severe chemical burn is associated with significant ocular morbidity and long-term prognosis is poor. Graft survival rate was significantly better in conjunctival limbal autograft compared to keratolimbal allograft when comparing the Long-term outcome of limbal stem cell transplantation for management of total limbal stem cell deficiency due to chemical burn.Keywords: Limbus Cornea, Stem Cell, Transplantation, Cornea, Eye Burns   

Application of Molecular Cytogenetic Technique for Rapid Prenatal Diagnosis of Aneuploidies in Iranian Population

Objective: Classic cell culture and karyotyping is routinely used for prenatal detection of different chromosomal abnormalities. Molecular cytogenetic techniques have also recently been developed and used for this purpose. Quantitative florescence PCR using short tandem repeat (STR) markers has more potential for high throughput diagnosis. Marker heterozygosity in short tandem repeats (STR) is of critical importance in the clinical applicablity of this method. Materials and Methods: Different STR markers on chromosomes 13, 18, 21, X and Y  were analysed from  amniotic samples to detect related disorders such as Down, Edward, Patau,  Klinefelter sundromes , as well as sex chromosomes numerical abnormalities . Results: In our population some markers (D18S976, DXS6854, D21S11, and D21S1411) showed alleles with sizes out of expected ranges. But others occupied narrower range of predicted distribution. Most markers have enough heterozygosity (66.3-94.7) to be used for prenatal diagnosis. Furthermore, results obtained from full karyotype for all samples were in concordance with results of molecular cytogenetic testing. Conclusion: It is concluded that, in urgent situations, if proper markers used, molecular cytogenetic testing (QF-PCR) could be a useful method for rapid prenatal diagnosis (PND) in populations with high rate of consanguinity such as Iran.