Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation.

PURPOSE: To evaluate the asymmetry of the anterior segment phenotype between the two eyes of a patient with Axenfeld-Rieger syndrome (ARS). METHODS: The entire database of a tertiary glaucoma practice was screened for patients with ARS. The medical records of patients with ARS were reviewed. The clinical characteristics of ocular examination of the two eyes of each patient were recorded and compared. Dental and medical information were also reviewed where available. The anterior segment phenotype was tabulated to assess asymmetry. Asymmetric anterior segment characteristics of patients with ARS were compared with reported cases in the literature. RESULTS: Eight patients with ARS were identified from screening of more than 5,000 patients of a tertiary glaucoma practice. All patients had Axenfeld-Rieger anomaly in both eyes except one patient presented with an asymmetric phenotype of the anterior segment with features of Axenfeld-Rieger anomaly in one eye, but aniridia in the other eye. This patient had non-ocular findings including flat midface, hypodontia with lack of an upper incisor, and redundant periumbilical skin, typical for ARS. A heterozygous C>T nucleotide substitution was identified in exon 4 of the pituitary homeobox 2 (PITX2) gene, resulting in the replacement of a glutamine codon (CAG) with a stop codon (TAG) at amino acid position 67. This mutation is denoted c.199C>T at the cDNA level or p.Gln67Stop (or Q67X) at the protein level. Only three cases with asymmetric anterior segment phenotype between the two eyes of a patient with AGS have been reported in the literature. CONCLUSIONS: Variability in phenotype may occur between the two eyes of an individual affected by ARS. The current case undermines the advantage of genetic testing to correctly diagnose a rare disease.

Evaluation of carboxytherapy and platelet-rich plasma in treatment of periorbital hyperpigmentation: A comparative clinical trial.

BACKGROUND: Management of periorbital hyperpigmentation (POH) is still a therapeutic challenge. Although different therapeutic modalities are available, the outcomes of most of them are unsatisfactory. OBJECTIVES: To investigate and compare the efficacy and safety of two new modalities in the treatment of POH; the platelet rich plasma (PRP) and the carboxytherapy. SUBJECTS AND METHODS: The study included 30 patients with POH. Every patient was subjected to seven intradermal injections of PRP on the left periorbital area with 2 week intervals between sessions and carboxytherapy on the right area with 1 week interval apart. Assessments were done by investigators' assessment, visual analogue scale by both patients and doctors, and patients' satisfaction. Side effects were reported. RESULTS: All patients completed the sessions in the carboxy-treated side. In the PRP-treated side, 10 patients refused to complete all sessions because of intolerable side effects. Significant improvement in POH was achieved in both sides (P ≤ .0001). The improvement was comparable with no statistically significant difference between both modalities. Side effects in the carboxy treated side were mild and well tolerated by all patients while they were relatively severe, and persisted for days after sessions in the PRP-treated side. CONCLUSIONS: Both PRP and carboxytherapy are relatively effective and their efficacy is comparable in treatment of POH. Carboxtherapy is simple and slightly more effective modality and well tolerated than PRP. We believe that both modalities are promising but not the ideal solutions of the POH problem which is caused by multifactorial etiology.