Rates of diagnostic genetic testing in a tertiary ocular genetics clinic.

BACKGROUND: Clinical genetics has evolved significantly to become an efficient and effective means of diagnosing disease. Genetic treatments are now being developed which are showing promising results. However, ophthalmic patients are not utilizing genetic testing as part of their diagnostic workups. This paper explores the patient experience at the Ocular Genetics Clinic (OGC) at the University of Arkansas for Medical Sciences (UAMS) Jones Eye Institute and discusses reasons why patients continue to not pursue genetic testing. MATERIALS AND METHODS: We performed a retrospective chart review to understand the main reasons why patients were referred to the OGC between 2009 and 2018, with a detailed analysis of why patients did not pursue genetic testing. RESULTS: Patients mainly did not undergo testing due to the cost of testing. However, patient availability, patient interest, and diagnostic workup also drove a significant amount of this lack of testing. CONCLUSIONS: Ocular genetic testing is becoming an increasingly beneficial tool for diagnosing ocular disease. However, to date, patients do not utilize this service fully. At the OGC, there are several main drivers for this lack of testing, namely finances, interest/availability, and diagnostic workup. As more ocular genetics clinics are established, it will be imperative to address reasons for forgoing genetic testing and to develop strategies to encourage patients to pursue this testing.

Comparison of the Effect of Cycloplegia on Astigmatism Measurements in a Pediatric Amblyopic Population: A Prospective Study.

PURPOSE: To study the effect of cycloplegia on astigmatism measurements in pediatric patients with amblyopia. METHODS: This was a prospective comparative clinical study. Participants 4 to 17 years old were recruited from the patient population at the Arkansas Children's Hospital eye clinic after informed consent was obtained. Autorefractor measurements were used to obtain values of refractive error in amblyopic and non-amblyopic patients before and after cycloplegia. The groups were subdivided into myopia and hyperopia and with and without underlying amblyopia. The refractive error was expressed as sphere, cylinder, axis of astigmatism, and spherical equivalent. The treatment effect was summarized as the mean difference (95% confidence interval) for each outcome. RESULTS: No statistically significant difference was found on the axis and power of astigmatism before and after cycloplegia in the patients with amblyopia (P = .28 and .99, respectively). CONCLUSIONS: Non-cycloplegic autorefraction measurements may be considered safe for refining astigmatism power and axis in pediatric patients with amblyopia. [J Pediatr Ophthalmol Strabismus. 2018;55(5):293-298.].

Pediatric ocular injury secondary to a Burmese python bite.

We report the case of a 6-year-old girl with a penetrating ocular injury caused by a Burmese python. She received intravenous cefazolin before presenting and was treated thereafter with daily topical antibiotics and atropine. Six weeks after injury, she underwent cataract extraction and sulcus implantation of an intraocular lens and iris synechiolysis, with postoperative patching. Final visual outcome was excellent despite no globe repair was performed.

Unilateral strabismus surgery in patients with exotropia results in postoperative lateral incomitance.

PURPOSE: To determine whether unilateral strabismus surgery creates lateral incomitance in patients with exotropia. METHODS: Patients >7 years of age with intermittent or constant exotropia who underwent unilateral horizontal rectus muscle surgery between December 2009 and January 2012 were prospectively evaluated. Prism and alternate cover testing was performed with distance fixation in primary position, right gaze, and left gaze after 1 hour of monocular occlusion. Measurements were obtained within 1 month prior to surgery, within 1 week after surgery, and >3 months after surgery. The surgical procedure varied according to the surgeon's discretion. The change in deviation induced by strabismus surgery in lateral gaze was expressed as a percentage of the change in deviation induced in primary position. RESULTS: A total of 12 patients met inclusion criteria. Of the 11 patients with postoperative examinations within 1 week after surgery, 10 (91%) had greater surgical effect with gaze toward the operated eye (P = 0.007). All 9 patients with >3 months' follow-up had greater surgical effect with gaze toward the operated eye (P = 0.003). On average, the surgical effect in gaze toward the operated eye was 120% of that achieved in primary position; in gaze away from the operated eye, 75% (P < 0.001). Three patients had diplopia in lateral gaze toward the operated eye that remained >6 months after surgery. CONCLUSIONS: Unilateral strabismus surgery induces lateral incomitance that may cause diplopia >6 months after surgery in patients with exotropia. This should be considered when planning strabismus surgery and counseling patients.

Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis.

We present an 11-month-old girl with congenital ocular motor apraxia (COMA) and Joubert syndrome found to have a compound heterozygous mutation in the NPHP1 gene that is responsible for juvenile nephronophthisis type 1. The association of congenital ocular motor apraxia and juvenile nephronophthisis is reviewed. The patient does not currently manifest signs of renal failure, although her mutation indicates that she is at risk for the development of juvenile nephronophthisis type 1.

Long-term visual acuity and initial postoperative refractive error in pediatric pseudophakia.

OBJECTIVE: To examine the long-term best-corrected visual acuity (BCVA) in children who, during the amblyogenic period, underwent cataract extraction with intraocular lens (IOL) implantation and to see if initial postoperative refractive error following cataract extraction correlates with long-term BCVA. DESIGN: Retrospective chart review. PARTICIPANTS: Thirty-six eyes of 26 patients were included in the study. At least 2 years of follow-up, an age , 8.5 years at time of IOL implantation, an ability to participate in subjective visual acuity measurement, and an absence of congenital glaucoma and significant trauma were required for inclusion in the study. METHODS: Retrospective review of pseudophakic patients' charts at a tertiary care centre, with attention to initial and long-term pseudophakic refractive error, long-term BCVA, total myopic shift, length of follow-up, age at IOL implantation, and unilateral or bilateral cataract extraction with IOL implantation. RESULTS: Initial pseudophakic spherical equivalent (SE) showed a significant nonlinear relationship with most recentBCVAin unilateral cases and no relationship in bilateral cases (interaction p 0.001). Unilateral cases with initial pseudophakic SE between +1.75 D and +5.00 D showed better long-term BCVA than those with values below +1.75 D or above +5.00 D; this was irrespective of the refractive error of their fellow eye. CONCLUSIONS: In patients receiving lens implants in the first 8 years of life, we recommend aiming for low early postoperative hyperopia, taking into consideration each patient's situation and age.

Emmetropization in accommodative esotropia: an update and review.

Many children with accommodative esotropia are able to successfully discontinue spectacle wear, while others require spectacle correction into adulthood. Parents often ask about the likelihood of glasses being required on a long-term basis and whether use of spectacles will cause dependency. Most infants are hyperopic and gradually become emmetropic. The extent to which accommodation and spectacle use affect this process is still debated. However, certain characteristics, such as degree of hyperopia, can help predict long-term spectacle requirement.