Comparison of Intravitreal Ranibizumab and Laser Photocoagulation in the Treatment of Type I Retinopathy of Prematurity in Malaysia: A One-Year Follow-Up Study.

PURPOSE: This study aimed to evaluate the treatment efficacy, anatomical outcomes, and refractive outcomes of laser photocoagulation (LPC) and intravitreal ranibizumab (IVR) in the treatment of type I retinopathy of prematurity (ROP) at one-year follow-up. METHODS: This is a retrospective study on the treatment of type I ROP and aggressive ROP (A-ROP) using LPC or IVR in three Malaysian hospitals providing pediatric ophthalmology services from January 2019 to December 2021. Information on gestational age, birth weight, ROP zone and stage, and underlying comorbidities was collected. Parameters for evaluating treatment efficacy include the time taken to achieve complete regression, the regression rate, and the reactivation rate. The anatomical and refractive outcomes were evaluated at one year of adjusted age. RESULTS: This study included 92 eyes from 46 infants. Of these, 42 eyes received LPC as the initial treatment, while 50 eyes underwent IVR. A higher percentage of infants with cardiovascular disease were treated with IVR (66.7%) compared to LPC (40%) (p<0.05). However, there were no significant differences in gestational age, birth weight, respiratory distress syndrome, sepsis, or intraventricular hemorrhage between the two treatment groups (p>0.05). Infants treated with LPC had a higher regression rate than those treated with IVR, but they were also significantly more myopic and had worse best-corrected visual acuity (BCVA). Conversely, infants treated with IVR experienced a significantly higher reactivation rate compared to those treated with LPC. Logistic regression analysis showed no significant associations between gestational age, birth weight, plus disease, zone 1 ROP, and the choice of initial treatment with the reactivation of ROP. CONCLUSIONS: Both LPC and IVR effectively treat type I ROP in infants, with IVR yielding superior anatomical and refractive outcomes and LPC offering a lower reactivation rate. Understanding individual patient characteristics is crucial for treatment selection.

Intra-arterial chemotherapy for retinoblastoma: Experience from the pediatric ophthalmology referral center in Malaysia with literature review.

PURPOSE: We aimed to analyze our 4-year experience of intra-arterial chemotherapy (IAC) for retinoblastoma (RB) and to examine the tumor response, globe salvage, mortality, and safety profile of IAC in the Malaysian profile. MATERIALS AND METHODS: This was a retrospective, interventional case series. A total of 22 eyes of 20 patients with RB who underwent IAC using melphalan and topotecan from January 2018 to December 2021 in Hospital Kuala Lumpur were retrospectively reviewed. Tumor response, globe salvage, mortality, and safety profile of IAC were compared based on the International Classification of Retinoblastoma. RESULTS: The mean patient age at IAC was 21.3 months. An overall globe salvage rate of 63.6% was observed: more specifically, 100% for Group A, 75% for Groups B and C, 66.7% for Group D, and 42.9% for Group E. Poor tumor response after IAC was significantly associated with a lesser chance of globe salvage (P = 0.045). The overall rate of good tumor response following IAC was 77.3%. Specifically, rates of good tumor response in each group were 100%, 75%, 75%, 83.3% and 71.4% in group A, B, C, D and E, respectively. The mortality rate was 5%. Complications (per-catheterization) included cerebral infarct (2.2%), oxygen desaturation (2.2%), vomiting (26.1%), periorbital edema (8.8%), ptosis (6.5%), fever, femoral hematoma, and hyperpigmentation over lid (4.4% each). CONCLUSION: Four-year experience showed that IAC is a safe and effective method for RB management. Patients with a poor response after IAC may have a lower chance of globe salvage. Careful patient selection is of utmost importance to achieve the best outcome in a setting of limited health-care resources.

Familial exudative vitreoretinopathy in a 4 generations family of South-East Asian Descendent with FZD4 mutation (c.1501_1502del).

BACKGROUND: Familial Exudative Vitreoretinopathy (FEVR) is a hereditary disorder characterized by peripheral avascular retina with neovascularization. Although FEVR has been thoroughly described in multiple literature publications from different countries, there are currently limited articles describing the phenotypes of FEVR among South-East Asian Descendent. This paper describes the clinical phenotype of the FZD4 gene with c.1501_1502 deletion in a 4-generation case series of a South East Asian family. METHODS: We reviewed a 4-generation case series of a South-East Asian descendent family consisting of 27 family members with 10 members diagnosed with FEVR. We observed the clinical phenotype of these series of patients, including some of the family members who underwent whole-exome sequencing, PCR amplification and DNA sequencing techniques to identify the mutated gene. RESULTS: Frameshift mutation (c.1501_1502del) were found in FZD4 gene in this series of patients with the age ranging from 1 month old to 69 years old. There was a 100% (4/4) of our paediatric patients being diagnosed within 21 days of life. It was also found that 75% of patients (6/8) less than 40 years old exhibited disease asymmetry of 2 stages or more and 80% (8/10) had a history of vitreoretinal surgery or diode laser photocoagulation, with a further 50% of the adult patients identified as legally blind; the mean age of blindness was 18-years-old. CONCLUSIONS: Phenotypic manifestation of FZD4 gene with c.1501_1502del mutation can be identified within the neonatal period. They have relatively greater clinical asymmetry of 2 stages or more compared to other mutations. Without treatment, most of them will have bilateral severe visual impairment around the adolescent age group.

Optic Neuropathy in an Autistic Child With Vitamin A Deficiency: A Case Report and Literature Review.

An eight-year-old boy with autism developed gradual onset of vision loss and nyctalopia. Dietary history revealed a diet of only French fries and potato chips for the past four years. As a result, serum vitamin A was severely below the normal level. Ophthalmologic examination revealed a normal anterior segment with bilateral optic atrophy. Vitamin A supplementation was given to restore to normal level; however, the visual impairment was irreversible. Vitamin A deficiency is common in developing countries; however, to the best of our knowledge, there are no other reported cases of permanent visual loss secondary to vitamin A deficiency in Malaysia.

Encephalocraniocutaneous Lipomatosis: A Case Report and Literature Review.

Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome is a neurocutaneous disorder of the skin, eye, and central nervous system. A three-month-old girl was referred to our center for further management of a large left eye corneal dermoid. At birth, a small lesion was noted. Magnetic resonance imaging (MRI) around the first week of life showed an extraocular dermoid cyst measuring 1 mm x 7 mm, dysplasia of the left greater wing of sphenoid, closed-lip schizencephaly of the left parietal lobe, and polymicrogyria. During examination under anesthesia at our center, we found that the corneal dermoid had grown in size to 17 mm x 16 mm, with posterior embryotoxon, a hazy cornea, and intraocular pressure of 26 mmHg. With the anterior segment dysgenesis and secondary glaucoma, we started Gutt Timo-Comod BD. Serial MRI imaging at four months of age revealed further enlargement of the dermoid, a new left retrobulbar mass, and multiple intracranial lipomas. A diagnosis of ECCL was made at this point based on the MRI and clinical findings. A multidisciplinary meeting was held among ophthalmology, neurosurgery, radiology, and otorhinolaryngology (ORL) teams, which concluded that surgical intervention such as tumor debulking might cause more harm than benefit. Hence, she was planned to undergo close monitoring with serial MRIs and only for surgical intervention, in the presence of airway compression or any neurological deficits. The ophthalmologist should be aware of the specific radiological and clinical findings in ECCL as management of the condition would be best through a multidisciplinary approach.

Intra-arterial chemotherapy for retinoblastoma: Our first three-and-a-half years' experience in Malaysia.

AIM: To report our first three-and-a-half years' experience with intra-arterial chemotherapy (IAC) in managing retinoblastoma (RB). METHODS: Single institution, retrospective, interventional case series of 14 retinoblastoma patients managed with IAC from December 2014 to June 2018. Demographics were described. Outcomes measures were tumor response, treatment complications and globe salvage. RESULTS: Subjects' mean age at the first administration of IAC was 31.4 months. 57.1% of the eyes were Group D and E retinoblastoma, while 79% were bilateral disease. 93% of the eyes were as secondary treatment. Of 32 IAC cannulations performed, 23 (71.8%) were successful and received chemotherapy drug melphalan. Each eye received a mean of 1.8 (range 1-4) IAC injections. 53% of the eyes showed regression post treatment. After a mean follow up period of 19 months, globe salvage rate was 38%. Most of the adverse effects experienced were localized and transient. CONCLUSION: IAC has provided an added recourse in the armamentarium of retinoblastoma treatment in our center. IAC treatment is a viable alternative in the treatment of retinoblastoma to salvage globe, for eyes that would conventionally require enucleation especially in bilateral disease.