Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series.

PURPOSE: Achromatopsia is a rare stationary retinal disorder that primarily affects the cone photoreceptors. Individuals with achromatopsia present with photophobia, nystagmus, reduced visual acuity (VA), and color blindness. Multiple genes responsible for achromatopsia have been identified (e.g. cyclic nucleotide-gated channel subunit alpha 3 [CNGA3] and activating transcription factor 6). Studies have assessed the role of gene therapy in achromatopsia. Therefore, for treatment and prevention, the identification of phenotypes and genotypes is crucial. Here, we described the clinical manifestations and genetic mutations associated with achromatopsia in patients from Saudi Arabia. METHODS: This case series study included 15 patients with clinical presentations, suggestive of achromatopsia, who underwent ophthalmological and systemic evaluations. Patients with typical achromatopsia phenotype underwent genetic evaluation using whole-exome testing. RESULTS: All patients had nystagmus (n = 15) and 93.3% had photophobia (n = 14). In addition, all patients (n = 15) had poor VA. Hyperopia with astigmatism was observed in 93.3% (n = 14) and complete color blindness in 93.3% of the patients (n = 14). In the context of family history, both parents of all patients (n = 15) were genetic carriers, with a high consanguinity rate (82%, n = 9 families). Electroretinography showed cone dysfunction with normal rods in 66.7% (n = 10) and both cone-rod dysfunction in 33.3% (n = 5) patients. Regarding the genotypic features, 93% of patients had variants in CNGA3 (n = 14) categorized as pathogenic Class 1 (86.7%, n = 13). Further, 66.7% (n = 10) of patients also harbored the c.661C>T DNA variant. Further, the patients were homozygous for these mutations. Three other variants were also identified: c.1768G>A (13.3%, n = 2), c.830G>A (6.6%, n = 1), and c. 822G >T (6.6%, n = 1). CONCLUSION: Consanguinity and belonging to the same tribe are major risk factors for disease inheritance. The most common genotype was CNGA3 with the c.661C>T DNA variant. We recommend raising awareness among families and providing genetic counseling for this highly debilitating disease.

Evaluation of the efficacy of botulinum toxin injection for the treatment of infantile esotropia.

PURPOSE: The purpose of this study was to investigate the outcomes and complications of botulinum toxin injection (BTX) as the primary treatment of infantile esotropia (IET). METHODS: We included patients with IET who underwent BTX from 2015 to 2020. IET was defined as esotropia present before 12 months of age, with no significant refractive error, or limitation of rotations. We defined success as a postoperative angle of 0-10 prism diopters (PD). RESULTS: Sixty-three patients met our inclusion criteria (38 male patients [60.3%]). The mean age was 18 ± 8 months (range: 10-26), onset 6 ± 4 months (range: 2-10), and follow-up of 29 ± 25 months (range: 4-54). Amblyopia was present in 45 patients (71.4%). Number of BTX was, 1 in 42 (66.7%), 2 in 17 (27%), 3 in 4 (4.8%), and 4 in 1 (1.6%). The 1st BTX mean dose was 7 ± 3 international unit (range: 4-10) and a mean duration of 4 ± 1 min (range: 3-5). The mean preoperative angle of deviation was 42.30 ± 13.73 PD. The mean postoperative angle of deviation was 16.07 ± 16.15 PD (P = 0.0001). At the final follow-up, BTX was successful in 32 (51%) (success after 1st BTX 33.3%, 2nd BTX 46.03%, and 3rd BTX 50.79%). Twelve patients (19%) had undergone surgery due to the failure of BTX. Postoperative observations included transient ptosis 29 (49.2%), transient exotropia 36 (57.14%), inferior oblique overaction 13 (20.6%), vertical deviation 8 (12.7%), and persistent ptosis 1 (1.6%). CONCLUSION: The success rate of BTX for IET was 51%. BTX can be offered as an alternative to surgery to those who cannot undergo prolonged anesthesia or where accurate measurements could not be obtained.

Bilateral Lateral Rectus Recession in Duane Retraction Syndrome Type II: A Case Report.

A two year presented to the clinic with abnormal head posture and right-sided face turn since birth. On examination, he showed a large right face turn of 40° while concentrating on a near target. His ocular motility assessment showed a -4 limitation of adduction in the left eye with 40 prism diopters (PD) exotropia and grade 1 globe retraction of the left eye. He was diagnosed with type II Duane retraction syndrome (DRS) in the left eye and planned for lateral rectus recession of both eyes. Postoperatively, the patient was orthotropic at distance and near in primary gaze with resolved face turn and improvement of limitation of adduction to -2, but some limitation of abduction -1 in the left eye was observed. Herein, we discuss the clinical features, etiologies, tailored evaluation, and management for type II DRS patient.

Acquired Brown Syndrome After a Fist Punch: A Case Report.

A 15-year-old male presented with double vision in the left and upward gaze following a hit in the right orbital region. The orthoptic assessment revealed -2 limitation of elevation in the adduction position of the right eye and right hypotropia of 20 prism diopter (PD) in the left gaze and right hypotropia of 10 PD in the upward gaze. He was diagnosed with traumatic Brown syndrome and planned for superior oblique lengthening surgery for the right eye. Two months postoperatively, the patient has a normal extra-ocular motor function with the elimination of diplopia and significant improvement of elevation of the right eye in the adduction position. Herein, we discuss the clinical features, etiologies, tailored evaluation, and management for the patient with traumatic Brown syndrome.

The prevalence of strabismus and visual outcomes in children with hydrocephalus and a ventriculoperitoneal shunt: medical record review.

BACKGROUND: Many ophthalmological complications have been associated with hydrocephalus (HC), including ocular motility disorders, visual field defects, optic atrophy, and loss of visual acuity. No studies have investigated the prevalence of strabismus and visual outcomes of children with congenital HC after ventriculoperitoneal (VP) shunt in Saudi Arabia. OBJECTIVES: Estimate the frequency of strabismic children diagnosed with HC who underwent a VP shunt procedure. DESIGN: Medical record review SETTING: Tertiary care center PATIENTS AND METHODS: We reviewed the files of all pediatric patients diagnosed with hydrocephalus before the age of 2 years and treated with shunts during the period 2010 to 2020 at our institution. MAIN OUTCOME MEASURES: Strabismus types and ophthalmic assessment (visual state, outcomes, and ocular motility state). SAMPLE SIZE AND CHARACTERISTICS: 190 children; 98 (51.5%) males. RESULTS: Eighty-nine (46.8%) had congenital HC followed by intraventricular hemorrhage 36 (18.9%); 74 (38.9%) patients had regular follow-ups in ophthalmology. Sixty-five (34.2%) patients had no ophthalmic assessment or fundus examination records, while 63 (33.1%) were diagnosed with strabismus. At the initial assessment, 26 (13.6%) patients had exotropia (XT). At the final assessment, 7 (3.6%) patients had XT. The association between VP shunt and strabismus was statistically significant, (χ2=6.534, df=1, P<.01). CONCLUSION: More than one-third of children diagnosed with HC who had surgical treatment in a tertiary hospital did not have any records of ophthalmic assessment, which highlights the need to implement a specific ophthalmological examination protocol in patients with HC. Further studies are needed to analyze the association between VP shunt and strabismus. LIMITATIONS: Evaluating the ocular state and visual function before and after VP shunt was not possible. CONFLICT OF INTEREST: None.

Knowledge, Attitude, and Practice Among Parents of Strabismic Children in Saudi Arabia: A Cross-Sectional Study.

Background Strabismus is a reversible condition that must be identified and treated during the critical period of childhood. Thus, this study aims to evaluate the degree of knowledge, attitude, and practice among parents of strabismic children in Riyadh, Saudi Arabia. Method To this end, a cross-sectional study was conducted from August 2021 to November 2021 with a sample size of 424 parents of children with strabismus seeking ophthalmologic consultants in private and governmental ophthalmology clinics in Riyadh, Saudi Arabia. A self-administered questionnaire was used to collect the data. The questionnaire contains knowledge-related questions about strabismus, beliefs-related questions, questions addressing the barriers parents face regarding strabismus in a child, and sources of information about cross-eye and its management. Data were analysed using the SPSS database version 21 (IBM Corp., Armonk, NY, USA). P-values <0.5 was used for clinical significance. Result We found that most parents know there is a relationship between strabismus and refractive errors (69%) and cross eye can be corrected (55%). Moreover, strabismus causes psychosocial difficulties (55%), low self-esteem, and low school performance. Parents of strabismic children believed that their love for their children is not affected due to crossed eyes (53%) and that strabismic children should not be taken to traditional healers (59%). Barriers faced during the management of strabismus are parents' negligence (76%), fear of surgery (34%), and high cost (29%). Doctors are the most used and preferred source of information among parents of strabismic children. Conclusion This study identifies gaps in knowledge, wrong beliefs in society, and the barriers faced by parents of strabismic children. Thus, raising awareness of the importance of detecting and treating strabismus early, avoiding psychosocial complications, and improving children's quality of life.

Lateral rectus recession for consecutive exotropia in esotropic Duane syndrome: A case report.

Consecutive exotropia is considered as a rare complication after medial rectus recession that is performed for cases of esotropic Duane syndrome. Here, we present a case of 5-year-old female initially presented with the limitation of abduction, narrowing of the palpebral fissure, and globe retraction of the left eye along with a mild left face turn. She was diagnosed with Duane syndrome Type 1. She was treated with the medial rectus recession (6.5 mm). Postsurgery, she developed a consecutive exotropia. This was managed successfully with the ipsilateral lateral rectus recession (8 mm). Following this surgery, the patient was orthoptic in the primary position and her abnormal head posture was markedly improved.