Peters Anomaly in Nail-Patella Syndrome: A Case Report and Clinico-Genetic Correlation.

PURPOSE: The purpose of this study was to report the clinicopathological features of Peters anomaly in a child with nail-patella syndrome. METHODS: Nail-patella syndrome (NPS) is a rare autosomal dominant connective tissue disorder characterized by several anomalies of the extremities, joints and nails, glomerulopathy, and rarely ocular involvement. NPS is caused by heterozygous loss-of-functional mutations in the LMX1B gene that encodes the LIM homeodomain proteins. RESULTS: This case reports a new association of Peters anomaly in a child with NPS that also had classic skeletal/nail anomalies and protein losing nephropathy. Furthermore, DNA sequence analysis identified a novel missense heterozygous mutation in the LMX1B gene (Transcript ID: NM_001174146) resulting in the replacement of tryptophan by serine in codon 266, suggesting that the mutation (p.Trp.266Ser) affects LMX1B function by disturbing its interactions with other proteins. To the best of our knowledge, this association of Peters anomaly is novel and has not been reported earlier in the ophthalmic and systemic literature on NPS. CONCLUSION: The corneal findings in our case with NPS are similar to those seen in congenital corneal opacification because of Peters anomaly. This novel association of Peters anomaly with NPS may be related to the effects of the LMX1B mutation on corneal development.

Interobserver Variability for Measurement of Grating Acuity in Preverbal and Nonverbal Children Using Lea Grating Paddles.

PURPOSE: To study interobserver variability for measurement of grating acuity in preverbal and nonverbal children with developmental delay using Lea Grating Paddles (Lea Hyvärinen). METHODS: In this prospective study, preverbal patients younger than 3 years and older nonverbal patients (with developmental delay) were included. Those with poor neck holding were excluded. Binocular and monocular visual acuity assessment was done simultaneously using Lea Grating Paddles by two examiners who were blinded from each other's results. RESULTS: Thirty-one children were tested (19 [61.29%] males and 12 [38.71%] females). The mean age was 28.5 months (range: 4 to 44 months). A total of 92% of the observations showed interobserver agreement of 0.5 octave or better in binocular testing. Results for monocular testing showed interobserver agreement (0.5 octaves or better) in 95.65% and 95.23% of right and left eyes, respectively. Combined results showed agreement better than 0.5 octaves in 94.20%. The mean binocular visual acuity was 2.07 and 2.14 cycles per degree (cpd) for the first and second observer, respectively (P = .59). Similarly, the mean monocular visual acuity for the right and left eyes was 0.98 and 0.97 cpd for observer 1 and 0.89 and 0.79 cpd for observer 2, respectively (P = .91 and .14, for the right and left eyes, respectively). CONCLUSIONS: Interobserver variability for grating acuity measurement using Lea Grating Paddles is minimal, signifying it to be a reliable and reproducible alternative to conventional preferential looking testing procedures. [J Pediatr Ophthalmol Strabismus. 2020;57(5):305-308.].

Single Horizontal Muscle (Medial or Lateral Rectus) Transposition and Inferior Rectus Recession in Monocular Elevation Deficit: A Novel Surgical Technique.

PURPOSE: To describe a novel surgical technique for the treatment of monocular elevation deficit and report its short-term outcomes. METHODS: This was a prospective interventional case series. It was an institutional-based study of 5 patients with monocular elevation deficit. A single horizontal rectus muscle was transposed to 2 mm from the insertion of the superior rectus muscle along the spiral of Tillaux, augmenting it with a non-absorbable suture taken 8 mm behind its insertion. The main outcome measures were primary position hypotropia and elevation deficit at 8 months postoperatively. RESULTS: The mean age was 12.4 years (range: 6 to 26 years). Four patients underwent lateral rectus transposition and one underwent medial rectus transposition. Inferior rectus recession was done in all patients. The mean follow-up period was 8 months (range: 6 to 12 months). The mean hypotropia reduced from 34.6 prism diopters (PD) (range: 20 to 48 PD) preoperatively to 0.8 PD (range: -4 to 8 PD) at 8 months postoperatively. Additionally, 3 patients had exotropia with a mean of 12 PD (range: 2 to 20 PD) and 2 had esotropia with a mean of 28.5 PD (range: 12 to 40 PD); 1 underwent lateral rectus recession and 1 medial rectus recession. Three patients did not require any horizontal muscle surgery. The mean elevation deficit in abduction, straight up gaze, and adduction improved from 4.4, 3.2, and 2.8 to 2.0, 2.0, and 1.8, respectively. The mean depression deficit was 0.5. No adverse effects were noted. CONCLUSIONS: Single horizontal muscle transposition with inferior rectus recession allows sparing of at least one horizontal muscle and achieves adequate elevation effect and primary position deviation correction, at least in the short-term follow-up. [J Pediatr Ophthalmol Strabismus. 2019;56(3):183-187.].

Endophthalmitis following Suture Removal - Clinical Outcomes and Microbiological Profile.

AIMS: To review the clinical profile and report the microbiology and treatment outcomes of endophthalmitis following suture removal. METHODS: In this multi-center, retrospective interventional case series, 11 eyes of 11 patients who developed endophthalmitis following suture removal from January 2006 to December 2017 were reviewed. RESULTS: Nine of the 11 patients developed a culture-proven, acute onset endophthalmitis [5.3 ± 3.1 days (range 2-10 days)]. Mean age was 15.8 ± 21.2 years (median 7; range, 1-66 years). Presenting visual acuity was extremely low ranging from light perception (PL) to counting fingers close to face (CFCF) at the time of diagnosis of endophthalmitis. Out of the 11 patients, 8 belonged to the pediatric age group; four out of those eight had loose sutures secondary to cataract surgery, two patients had loose sutures secondary to penetrating keratoplasty and 1 case each had loose sutures secondary to corneal tear repair and secondary IOL implantation, respectively. Streptococcus pneumoniae was the most common organism and was identified in seven cases and was susceptible to vancomycin in all these cases. Other bacterial isolates were Haemophilus influenzae and Achromobacter denitrificans. Three out of the 11 eyes had visual outcome of 20/200 or better. Six eyes were phthisical and one eye was eviscerated. Mean follow-up was 26.3 ± 31.2 weeks (range 2-92 weeks). Visual outcomes ranged from 20/40 to no light perception at the last follow-up. CONCLUSIONS: Endophthalmitis following suture removal though rare, is observed most commonly in the pediatric population and has an acute and a fulminant course. Streptococcus pneumoniae was the most commonly isolated microorganism. Visual acuity outcomes were poor despite prompt recognition of endophthalmitis and appropriate antibiotic therapy.

Optical coherence tomography angiography in acute unilateral nonarteritic anterior ischemic optic neuropathy: A comparison with the fellow eye and with eyes with papilledema.

Purpose: The purpose of this study is to detect the optic nerve head (ONH) and peripapillary perfusion in eyes with acute nonarteritic anterior ischemic optic neuropathy (NAION) compared to the fellow normal eyes using optical coherence tomography angiography (OCTA) and to compare with nonischemic disc edema (papilledema). Methods: Retrospective analysis of patients with unilateral NAION who underwent OCTA was performed. All patients underwent comprehensive ocular examination including visual field testing. ONH was imaged using 6 mm × 6 mm scan by Topcon DRI Triton® OCT system. Vascularity loss was analyzed using ImageJ software in diseased eyes in comparison to normal fellow eyes and eyes with papilledema. Results: Twenty-one patients (15 males, 6 females) with unilateral NAION and 9 patients (18 eyes) with papilledema were included in the study. In eyes with NAION, two distinct patterns of loss of vasculature were noted - (a) diffuse loss of microvasculature cuff and vascular network around the optic disc in all the patients (100%) and (b) additional area of sectoral loss of vasculature extending from the disc in 12 of the 21 eyes (57.14%). All 18 eyes with papilledema showed loss of the microvasculature cuff; however, none showed the focal pattern of vascular defect. The mean area of the peripapillary vascular zone in eyes with NAION was significantly lesser than that in normals. Of the 12 eyes with NAION with focal loss of vasculature, 11 correlated with visual field defects (91.6%). Conclusion: Deficient peripapillary choroidal vasculature is present in NAION and has a different pattern than in nonischemic disc edema and can cause corresponding visual field deficits.

Orbital apex syndrome as a complication of herpes zoster ophthalmicus.

Orbital apex syndrome is a rare neuro-ophthalmic manifestation of herpes zoster virus infection. We report one such case with favourable outcome in an immunocompetent patient. A 60-year-old woman presented with rash in the dermatome of the left ophthalmic nerve (V1), followed by sudden loss of vision with complete left-sided external and internal ophthalmoplegia. MRI of brain and orbits with contrast revealed optic perineuritis and myositis without intracranial involvement confirming the diagnosis of orbital apex syndrome. Functional visual recovery was achieved after a course of intravenous and oral steroids under antiviral cover over a follow-up period of 3 months.