Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.

In a consanguineous Pakistani family with two affected individuals, a homozygous variant Gly399Val in the eighth transmembrane domain of the taurine transporter SLC6A6 was identified resulting in a hypomorph transporting capacity of ~15% compared with normal. Three-dimensional modeling of this variant has indicated that it likely causes displacement of the Tyr138 (TM3) side chain, important for transport of taurine. The affected individuals presented with rapidly progressive childhood retinal degeneration, cardiomyopathy and almost undetectable plasma taurine levels. Oral taurine supplementation of 100 mg/kg/day resulted in maintenance of normal blood taurine levels. Following approval by the ethics committee, a long-term supplementation treatment was introduced. Remarkably, after 24-months, the cardiomyopathy was corrected in both affected siblings, and in the 6-years-old, the retinal degeneration was arrested, and the vision was clinically improved. Similar therapeutic approaches could be employed in Mendelian phenotypes caused by the dysfunction of the hundreds of other molecular transporters.

The eye as a window to a rare disease: ectopia lentis and homocystinuria, a Pakistani perspective.

Non-traumatic ectopia lentis has been associated with genetic diseases in a European population; however, no data are present in regards to this in a Pakistani demographic. In third world countries such as Pakistan, due to the lack of screening tests, this disease has the potential to remain undiagnosed till a later age, at which point the eye through the finding of ectopia lentis has potential to lead to the right diagnosis. Our purpose was to investigate Pakistani patients presenting with ectopia lentis who have underlying homocystinuria and establish a relationship between the two. Additionally, we elicited various systemic and ophthalmic features in these settings. Ten Pakistani patients presenting with decreased vision and ectopia lentis with concomitant homocystinuria were included in the study. Assessment of systemic and ophthalmic features was performed. All patients presented with visual deterioration. All 20 (100 %) eyes had ectopia lentis, of which, 15 (75 %) eyes had inferior subluxation, whereas five (25 %) eyes had anterior subluxation of the crystalline lens. Ectopia lentis and homocystinuria appear to have a strong correlation in Pakistani population. Ectopia lentis has the potential to serve as an important clue to its diagnosis, which may in turn lead to decreased morbidity if diagnosed in a timely fashion.

Intravitreal Bevacizumab (IVB) for Macular Edema Secondary to Branch Retinal Vein Occlusion (BRVO).

OBJECTIVE: To evaluate the effectiveness of intravitreal Bevacizumab in decreasing central macular thickness in branch retinal vein occlusion (BRVO) related macular edema. STUDY DESIGN: Quasi experimental study. PLACE AND DURATION OF STUDY: Armed Forces Institute of Ophthalmology (AFIO), Rawalpindi, Pakistan, from March to August 2017. METHODOLOGY: Intravitreal Bevacizumab (1.25 mg/0.05 ml) was given in inferotemporal quadrant under aseptic conditions on monthly basis for consective three months. Post-injection, all the patients were followed up on monthly basis for consecutive three months. CMT (in µm) was measured by using OCT at baseline and after intravitreal Bevacizumab injections at one month, two months, and finally at three months. RESULTS: Forty eyes of forty patients were included in the study. There were 25 (62.5%) male patients and 15 (37.5%) female patients. Baseline mean CMT ±SD was 358 ±36 µm before IVB injection. Mean CMT was 252 ±12 µm at 3 months (after three IVB injections). At three months, mean percentage decrease in CMT was 29.60%. CONCLUSION: Intravitreal Bevacizumab is effective and results in decrease in central macular thickness to normal or near- normal levels in branch retinal vein occlusion (BRVO) related macular edema.

Combined Intravitreal Triamcenolone Acetonide and Bevacizumab for Refractory Diabetic Macular Edema.

OBJECTIVE: To evaluate the effectiveness of combined Intravitreal triamcinolone acetonide (IVTA) and Intravitreal Bevacizumab (IVB) for treatment of refractory diabetic macular edema. STUDY DESIGN: Quasi-experimental study. PLACE AND DURATION OF STUDY: Armed Forces Institute of Ophthalmology (AFIO), Rawalpindi, from January to December 2017. METHODOLOGY: Pseudophakic diabetic patients with macular edema refractory to prior treatment were included. Patients having best corrected visual acuity (BCVA) better than 20/40 (6/12) or worse than 20/200(6/60) or the central subfield thickness (CSFT) less than 300 um on spectral domain optical coherence tomography (OCT) were excluded. Effectiveness of treatment was compared in terms of change in BCVA and CSFT on OCT. Intravitreal injection of 2 mg IVTA and 1.25 mg of IVB was given. IVB was repeated on monthly basis in next two months. Follow-up was done after one week of first injection and then monthly for next three months. RESULTS: Fifty eyes of 42 patients were studied. Mean age of the patients was 62.4 years +7.13. Male to female ratio was 2:1. Mean pre op LogMAR visual acuity was 0.708 +0.12 and CSFT was 439.10 +54.64 um. Mean postoperative LogMAR visual acuity was 0.586 +0.13 um and mean post op CSFT was 382.80 +56.12. There is statistically significant difference in improvement of LogMAR BCVA and decrease in CSFT after treatment. (p<0.001, paired t-test). CONCLUSION: Eyes with refractory macular edema showed improvement of visual acuity and reduction of CSFT at three months when treated with combined IVTA and IVB.

Traumatic aniridia in a pseudophakic eye.

A case is presented that illustrates selective disinsertion and extrusion of iris tissue after blunt trauma without damage to the intraocular lens (IOL). This was an observational case report of a single patient treated as an inpatient using topical steroids and antiglaucoma drugs. Progress was monitored by tonometry and slitlamp examination. Total absence of iris tissue was discovered after resolution of hyphema with restoration of vision. Absence of iris tissue was confirmed on gonioscopy and fundoscopy. The IOL was found undisplaced and intact in the capsular bag, and visual function was restored. The insertion of foldable IOLs through self-sealing small-incision cataract sections confers protection to the globe in the face of blunt trauma in 2 ways. The self-sealing cataract section acts as a release valve during the compressive phase and allows extrusion of the disinserted iris tissue, whereas the flexible IOL absorbs the impact and prevents disruption of surrounding tissues.

Colloid milium of the upper eyelid margins: a rare presentation.

AIM: To report a rare presentation of colloid milium occurring only on the upper eyelid margins. DESIGN: Interventional case report. METHODS: (1) Slit-lamp examination of eyelids and eyes and clinical examination including the face and a general physical examination; (2) photography of the lesions on the lids; and (3) excision biopsy and histopathologic examination. MAIN OUTCOME MEASURES: Histologic examination confirmed the clinical diagnosis. RESULTS: Clinical examination and histopathologic findings revealed the cysts to be colloid milium. CONCLUSIONS: Colloid milium can involve upper eyelids in isolation, sparing the lower eyelids and facial skin. Such rare presentations should be kept in mind while examining similar lesions.