Duane syndrome in association with congenital disorder of glycosylation type Ig (ALG12-CDG).

Congenital disorders of glycosylation type I (CDG-I) are a group of autosomal recessive genetic multisystem disorders that arise from defective glycoprotein biosynthesis. Although ocular abnormalities have been described in patients with CDG-I, few ocular abnormalities have been associated with ALG12-CDG (CDG-Ig), a rare subtype of CDG-I. We report a case of Duane syndrome, a congenital strabismus syndrome, in a 17-year-old young woman with ALG12-CDG.

Evaluation of Streamed Hardware-to-Software Telemedicine Strabismus Consultations Utilizing Video Glasses.

Background: While video glasses have been shown to be an effective tool for real-time pediatric strabismus telemedicine consultations, the high cost of the hardware-to-hardware conferencing system and bandwidth limitations may present barriers to accessibility and widespread adoption. This study evaluates the use of video glasses with a more affordable hardware-to-software video conferencing system for real-time strabismus consultations across multiple graders. Methods: A pediatric ophthalmologist (Grader 1) wearing video glasses simultaneously performed and recorded strabismus examinations in primary gaze, with and without correction, both at distance and near. Recorded parameters included strabismus category, angle measurements, and ocular motility. Three years later, four pediatric ophthalmologists (Graders 1-4) reviewed and graded streamed video feed transmitted at 1 megabit per second (Mbps) from a hard-wired codec to software. Agreement between streamed and gold standard in-person findings was determined by weighted kappa (κ) for categorical variables, intraclass correlation coefficient (ICC) for continuous variables, and percent agreement. Results: Eighteen patients aged 4-11 years (median, 7 years) were included. Agreement in strabismus category between in-person and streamed examinations was perfect for both horizontal and vertical deviations (κ=1.0). Almost perfect agreement was found for degree manifest (tropia vs intermittent tropia vs phoria) across graders (κ=0.91, range 0.86-0.97). Agreement for angle measurements was excellent across graders (ICC = 0.97, range 0.97-0.98). Extraocular motility agreement was 90% for all graders combined, with Grader 1 having 100% agreement between her in-person and streamed examinations. Conclusion: Feed obtained from video glasses streamed through a hardware-to-software video conferencing system at 1 Mbps is a reliable tool for pediatric strabismus telemedicine evaluations.

Evaluation of high-definition video smart glasses for real-time telemedicine strabismus consultations.

PURPOSE: To evaluate the use of high-definition, wireless video recording Pivothead glasses in streamed strabismus examinations. METHODS: A pediatric ophthalmologist wearing Pivothead glasses simultaneously performed and recorded strabismus examinations, which were completed in primary gaze, with and without correction, and at distance and near. Parameters included category of strabismus, angle measurements, and ocular motility. Another pediatric ophthalmologist, masked to clinical findings, reviewed and graded live video feed. At least 3 months later, both pediatric ophthalmologists graded the stored videos. Agreement was determined by unweighted kappa for categorical variables, intraclass coefficient for continuous variables, and percent agreement. RESULTS: A total of 100 videos were recorded for 37 enrolled patients aged 4-16 years. Agreement between streamed and in-person examinations was perfect for both horizontal and vertical (κ = 1.0) deviations. Agreement for degree manifest (tropia vs intermittent tropia vs phoria) was almost perfect for all deviations (κ = 0.94). Agreement was excellent for angle measurements of both horizontal (ICC = 0.95) and vertical (ICC = 0.91) deviations. Inferior and superior oblique agreement was 93% and 98%, respectively. Similar agreement was also observed between store-and-forward versus gold standard examinations. CONCLUSIONS: Real-time video feed obtained with video glasses can be read with a high degree of reliability for detecting strabismus category, angle, and extraocular motility.

Optic nerve atrophy in propionic acidemia.

OBJECTIVE: Propionic acidemia is a rare metabolic disorder that is diagnosed in the early neonatal period. The disorder is characterized by life-threatening ketoacidosis, lethargy, failure to thrive, and developmental delay. Herein we report the ocular findings in a prospective series of six patients with propionic acidemia. DESIGN: Prospective case series. PARTICIPANTS: Six children (three male and three female) between the ages of 2 and 10 years with propionic acidemia who were examined at Children's Hospital Los Angeles. METHODS: A complete ophthalmic examination was performed on each of the six children. The examination included visual acuity testing, ocular motility, anterior segment examination, and funduscopic evaluation. Emphasis was placed on the function of the optic nerve and on the appearance of the optic disc, looking for possible atrophic changes. MAIN OUTCOME MEASURES: The clinical appearance of the optic disc and evidence of optic neuropathy. RESULTS: Optic nerve atrophy was present exclusively in all of the male patients in the series; none of the female patients demonstrated any detectable impairment of optic nerve function. The optic nerve atrophy was symmetric and age dependent and varied from moderate to severe. There were no other anterior or posterior segment abnormalities, other than one case of unilateral morning glory syndrome, diagnosed at birth. There was no correlation between metabolic control and the development and progression of optic nerve atrophy. CONCLUSIONS: Males with propionic acidemia have moderate to severe bilateral optic atrophy.

Comparison of scleral and corneal Tono-Pen readings.

PURPOSE: To compare scleral Tono-Pen (Medtronic Solan, Jacksonville, FL) readings to corneal Tono-Pen readings. METHODS: Intraocular pressure (IOP) was measured prospectively in 72 eyes of 37 adult patients and in 10 eyes of 5 children. Measurements were taken on the central cornea and on the sclera. Recorded measurements were within 5% confidence levels by Tono-Pen. RESULTS: Corneal IOP ranged from 10 to 28 mm Hg (mean +/- standard deviation, 17.0 +/- 3.8 mm Hg). Scleral measurements ranged from 4 to 99 mm Hg (40.4 +/- 23.0 mm Hg). Scleral measurements ranged from 11 mm Hg lower to 76 mm Hg higher than corneal measurements. CONCLUSIONS: Tono-Pen readings obtained from sclera are of no clinical value and should not be used to approximate corneal IOP.