Rationale and protocol paper for the Asia Pacific Network for inherited eye diseases.

PURPOSE: There are major gaps in our knowledge of hereditary ocular conditions in the Asia-Pacific population, which comprises approximately 60% of the world's population. Therefore, a concerted regional effort is urgently needed to close this critical knowledge gap and apply precision medicine technology to improve the quality of lives of these patients in the Asia-Pacific region. DESIGN: Multi-national, multi-center collaborative network. METHODS: The Research Standing Committee of the Asia-Pacific Academy of Ophthalmology and the Asia-Pacific Society of Eye Genetics fostered this research collaboration, which brings together renowned institutions and experts for inherited eye diseases in the Asia-Pacific region. The immediate priority of the network will be inherited retinal diseases (IRDs), where there is a lack of detailed characterization of these conditions and in the number of established registries. RESULTS: The network comprises 55 members from 35 centers, spanning 12 countries and regions, including Australia, China, India, Indonesia, Japan, South Korea, Malaysia, Nepal, Philippines, Singapore, Taiwan, and Thailand. The steering committee comprises ophthalmologists with experience in consortia for eye diseases in the Asia-Pacific region, leading ophthalmologists and vision scientists in the field of IRDs internationally, and ophthalmic geneticists. CONCLUSIONS: The Asia Pacific Inherited Eye Disease (APIED) network aims to (1) improve genotyping capabilities and expertise to increase early and accurate genetic diagnosis of IRDs, (2) harmonise deep phenotyping practices and utilization of ontological terms, and (3) establish high-quality, multi-user, federated disease registries that will facilitate patient care, genetic counseling, and research of IRDs regionally and internationally.

Case Report: Unilateral Hemispheric Hemorrhage with Bilateral Ptosis and Upgaze Palsy.

SIGNIFICANCE: Determining the anatomic location of insult in cases of concurrent bilateral upgaze palsy with bilateral ptosis can be challenging because of the various overlapping pathways and shared functions. It is more commonly related to bilateral oculomotor nerve palsies and myasthenia gravis. However, the possibility of unilateral cerebrovascular events may be overlooked because of the lack of laterality of disease manifestations. PURPOSE: This report documents the uncommon presentation of bilateral ptosis and upgaze palsy in unilateral hemispheric hemorrhage with the corresponding clinical and anatomical review. CASE REPORT: A 46-year-old gentleman presented to the emergency department with left-sided hemiplegia, concurrent bilateral ptosis, and upgaze palsy. He was found to have acute hemorrhagic stroke secondary to significantly elevated blood pressure. Computed tomography of the brain revealed acute extensive intraparenchymal hemorrhage involving the right basal ganglia, frontal lobe, and temporal lobe. There was an extension of hemorrhage into the third ventricle and subarachnoid extension to the Sylvian fissure with obstructive hydrocephalus. An emergency right craniotomy was performed to evacuate the blood clot, and the hydrocephalus subsequently resolved. Post-operatively, bilateral ptosis and upgaze palsy improved and then resolved. CONCLUSIONS: Acute bilateral ptosis and upgaze palsy suggest the possibility of unilateral hemispheric hemorrhage, even though there is no direct involvement of the brainstem and its nuclei.

From Simple to Sinister: Kaposi Sarcoma Masquerading as a Subconjunctival Hemorrhage.

A young male in his early 30s presented with spontaneous left eye redness for three months associated with blood-stained eye discharge. There was no history of trauma, blood dyscrasias, or anticoagulant intake. On examination, visual acuity was normal in both eyes. An anterior segment examination of the left eye showed subconjunctival hemorrhage with a fleshy bright red conjunctival mass hidden in the inferotemporal fornix. Other parts of the ocular examination including the contralateral eye were unremarkable. Upon further inquiry, the patient revealed a history of a retroviral disease diagnosed eight years ago but had not pursued treatment. Systemic examination revealed a raised non-pigmented lesion of the tongue and a painless purplish plaque at the back. Investigations showed a high viral ribonucleic acid (RNA) load and confirmed the Kaposi sarcoma of the conjunctiva, tongue, and skin; cryptococcal meningitis; smear-negative pulmonary tuberculosis; and late latent syphilis. He was comanaged by multidisciplinary teams. Highly active antiretroviral therapy (HAART) was commenced. Treatment was a challenge considering the simultaneous presence of malignancy and a serious fungal infection of the brain in an immunosuppressed patient. Fortunately, three months post treatment, he showed remarkable improvement as there was almost a complete resolution of conjunctival Kaposi sarcoma. This case revealed an unusual presentation of Kaposi sarcoma affecting the conjunctiva, which could have been mistaken for simple subconjunctival hemorrhage in a young patient without informed comorbidity.

Case Report: Branch Retinal Vein Occlusion Post-mRNA SARS-CoV-2 (COVID-19) Vaccination.

SIGNIFICANCE: Systemic thromboembolic complications are well documented to be associated with coronavirus disease 2019 (COVID-19); however, there have been a growing number of reports regarding ocular complications stemming from COVID-19 vaccinations. This case illustrates a clear temporal and possible causal relationship of COVID-19 vaccination with an ocular microvascular disorder, namely, retinal vein occlusion. PURPOSE: This study aimed to report a case of inferotemporal branch retinal vein occlusion after messenger RNA Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination. CASE REPORT: A middle-aged woman developed right eye central scotoma 2 days after COVID-19 vaccination. She had transient hypertension during the first 2 days post-vaccination. A decrease in visual acuity (6/18) was documented. Initial retinal findings included flame-shaped hemorrhages and cotton-wool spots along inferotemporal branch retinal vessels. Optical coherence tomography revealed right eye cystoid macular edema. Laboratory investigation revealed mildly raised erythrocyte sedimentation rate and C-reactive protein. Other systemic examinations were unremarkable. She was treated for right eye inferotemporal branch retinal vein occlusion with cystoid macular edema and was given intravitreal anti-vascular endothelial growth factor monthly in three doses. Her visual acuity improved to 6/6 with resolved cystoid macular edema. CONCLUSIONS: This case illustrates a clear temporal and possible causal relationship between COVID-19 vaccination and retinal vein occlusion. Post-vaccination transient hypertension or the immunological and inflammatory response to the vaccine may have contributed to the venous occlusive event in this case. Eye care providers should remain aware of this possibility. The effectiveness of intravitreal anti-vascular endothelial growth factor for the treatment of macular edema secondary to branch retinal vein occlusion was demonstrated in this patient.

Unilateral Abducens Nerve Palsy as the Lone Sign of Cerebral Venous Sinus Thrombosis: A Case Report and Literature Review.

Cerebral venous thrombosis (CVT) is a rare condition characterized by the obstruction of cerebral venous sinuses or cortical veins, leading to stroke-like symptoms. This case report presents a case of a 74-year-old male with isolated unilateral abducens nerve palsy as the sole sign of CVT, without accompanying symptoms or focal deficits. Neuroimaging, including CT and magnetic resonance venography, confirmed the diagnosis of CVT with a thrombus in the right transverse sinus. The patient was co-managed with the medical team and initiated on anticoagulation therapy. Follow-up showed resolution of diplopia and improvement in extraocular muscle movements. Unilateral abducens nerve palsy in CVT is rare, with most cases presenting as bilateral palsy. The case report emphasizes the importance of considering CVT in the differential diagnosis of isolated abducens nerve palsy and highlights the role of neuroimaging in early detection. Timely diagnosis and appropriate management are crucial for favorable outcomes in CVT cases. Further research is needed to enhance understanding of the pathophysiology, prognosis, and optimal management of this uncommon presentation.

COVID-19-Related Rhino-Orbital-Cerebral Mucormycosis With Angioinvasion: A Lethal Sequelae.

A middle-aged man with multiple comorbidities including uncontrolled diabetes mellitus presented with shortness of breath and lethargy for six days. He was treated for COVID-19 pneumonia, requiring high cumulative steroid therapy. After 15 days of treatment, he developed right orbital apex syndrome with central retinal artery occlusion secondary to invasive mucormycosis. The infection progressed rapidly despite aggressive medical treatment, systemic anti-fungal therapy along with local transcutaneous retrobulbar amphotericin B injection. We report our battle in fighting this vicious disease. Judicious use of immunomodulators in COVID-19 treatment and close monitoring is crucial, especially in high-risk patients.

Bilateral Open Globe Injury Secondary to the King of Fruits: Durian Fall.

We report a case of bilateral open globe injury that resulted from a durian fruit falling on a 62-year-old woman's unprotected face during durian picking in her orchard. On presentation, the bilateral vision was light perception. The right eye sustained a curvilinear corneal laceration with expelled intraocular content. Meanwhile, the left eye sustained a corneoscleral laceration with expelled uvea and retina. Additionally, the right upper lid margin was lacerated. Emergency wound exploration, primary toilet, and suturing were performed on bilateral eyes. Preoperatively, she received intramuscular anti-tetanus toxoid and intravenous ciprofloxacin. Intravitreal ceftazidime and vancomycin were given intraoperatively as endophthalmitis prophylaxis. Postoperatively, the vision remained as light perception. There were no signs of endophthalmitis in both eyes. Although traumatic globe injury due to durian is uncommon, individuals should wear protective gear while in a durian orchard to avoid such unprecedented accidents. Prompt yet scrupulous action should be taken to save the globe and further possible complications.

Evaluation of Ocular Biometric and Optical Coherence Tomography Parameters in Preterm Children Without Retinopathy of Prematurity.

Purpose: To evaluate and compare biometric and optical coherence tomography parameters of ocular structures in preterm children without retinopathy of prematurity with term children. Methods: A cross-sectional, comparative study was carried out from 2018 to 2019. In this study, 124 eyes of 62 preterm children were compared with 132 eyes of 66 term children aged between 7 and 9 years. Preterm children were born at 28 to 32 weeks with a birth weight of less than 2 kg with no ocular abnormalities, and term children were delivered at 37 or greater weeks and had a birth weight of 2 kg or more. All children had standardized eye examinations, and ocular measurements using the anterior and posterior segment optical coherence tomography and laser interferometry. Results: Significant differences were found between the term and preterm children for horizontal corneal diameter: median, 12.2 mm (interquartile range [IQR], 0.4) versus median, 12.1 mm (IQR, 0.6; P < 0.005); axial length median, 23.03 mm (IQR, 1.10 mm) versus median, 22.88 mm (IQR, 1.35 mm; P = 0.017); global retinal nerve fiber layer thickness: mean ± standard deviation, 106.54 ± 10.23 µm versus mean ± standard deviation, 103.65 ± 10.178 µm (P = 0.024); temporal retinal nerve fiber layer thickness: median, 76 µm (IQR, 16 µm) vs median, 74 µm (IQR, 14 µm; P = 0.012); and the angle opening distance at 750 µm nasal: mean ± standard deviation, 0.815 ± 0.23 mm vs mean ± standard deviation, 0.749 ± 0.21 mm (P = 0.016). No significant differences were found for other anterior segment and angle parameters. Conclusions: Preterm children with no retinopathy of prematurity have smaller eyes and thinner retinal nerve fiber layers than their term counterparts. The long-term effects of interrupted ocular growth in preterm children should be further studied into adulthood. Translational Relevance: Preterm children maybe more predisposed to certain eye conditions because they have smaller eyes, and thus should be further monitored clinically.

Aggressive Retinopathy of Prematurity in a Larger and Less Preterm Infant: A Review of Possible Risk Factors.

Aggressive retinopathy of prematurity (A-ROP), formerly known as aggressive posterior retinopathy of prematurity (APROP), occurs generally in extremely premature infants less than 28 weeks gestational age with extreme low birth weight of ≤1000g. We report a case of A-ROP occurring in a larger and less preterm infant. The possible risk factors that lead to the occurrence of A-ROP in this infant will be discussed. An infant born vaginally at 30 weeks gestational age weighing 1550g was diagnosed with A-ROP. Retinopathy of prematurity (ROP) screening was performed due to the presence of risk factors: prematurity, low birth weight, received supplemental oxygen, intraventricular hemorrhage and history of maternal chorioamnionitis. Following a single injection of intravitreal ranibizumab, significant regression of A-ROP was observed. A-ROP was unexpected in this infant and was believed to have developed as a result of receipt of supplemental oxygen, maternal chorioamnionitis, and Ureaplasma infection.

The Diagnostic Challenges in Carotid Cavernous Fistula: A Case Series.

A carotid-cavernous fistula (CCF) is an arteriovenous fistula with an abnormal connection between the carotid artery and cavernous sinus that can be sight and life-threatening. The conjunctival injection is often the most prominent feature, and patients are commonly misdiagnosed for other ocular conditions leading to a delay in diagnosis and treatment. All three patients in this case series presented with persistent red eyes. They were all treated for conjunctivitis and only referred for further workup when other progressing ocular symptoms occurred. The diagnosis of CCF was confirmed with digital subtraction angiography and with successful endovascular embolization, their ocular symptoms resolved with preserved optic nerve function. A high index of suspicion in patients presenting with an atypical red eye is very crucial for timely diagnosis of CCF.

Retained Metallic Intraocular Foreign Body With Excellent Visual Outcome.

A healthy 25-year-old gentleman sustained a left eye perforating injury involving a metallic intraocular foreign body. Upon examination, his best-corrected visual acuity was 6/6 in the right eye and 1/60 in the left eye. There was a full thickness cornea-scleral laceration wound with uveal tissue prolapse at 7 o'clock. The pupil was peaked inferonasally. The anterior chamber was deep with cells grade 4+ and a hyphema level. The posterior segment could not be visualized due to a vitreous haemorrhage. The computed tomography scan revealed a high-density foreign body embedded in the posterior wall of the globe. He underwent primary toilet and suturing of the left eye cornea-scleral laceration, followed by pars plana vitrectomy with an endolaser and gas tamponade. However, the foreign body could not be identified intraoperatively. Post-operation, the left eye vision improved, achieving his premorbid best-corrected visual acuity of 6/6 by six months post-op. The intraocular foreign body was managed conservatively in view of the excellent visual acuity and the risk of further surgery. The patient has remained asymptomatic since then until his last follow-up at 30 months post-operation.

Retinal Racemose Hemangioma With Optic Neuropathy in a Child.

The aim of this study is to report an unusual case of retinal racemose haemangioma (RRH) in a child resulting in optic neuropathy and its optical coherence tomography angiography (OCT-A) findings. This is a retrospective case report. For almost a year, a 13-year-old girl experienced gradual, painless, generalized blurred vision in her right eye. Visual acuity was 6/60 with a positive relative afferent pupillary defect (RAPD) in her right eye. The right-eye fundus showed enlarged and tortuous retinal vessels extending from the optic disc to all four quadrants, including the juxta foveal region. OCT analysis revealed distortion in the region of enlarged vessels with minimal retinal fluid while OCT-A of the macula area demonstrated dilated and tortuous vessels in the superficial layers of the retina. Right intra-orbital vascular channels surrounding the optic nerve with optic nerve atrophy and gliosis were detected on magnetic resonance imaging angiography/venography (MRA/MRV). The cerebral angiogram reported an abnormal tangle of small vessels within the right orbit that received supply from a dilated right ophthalmic artery indicating the presence of retro-orbital arteriovenous malformation (AVM). She was then referred to the neurosurgeon and a decision was made not to embolize or resect the dilated vessel as this might lead to occlusion of the ophthalmic artery and thus worsen her vision. RRH may present in the paediatric age group, and optic nerve atrophy is one of the disease manifestations. OCT-A is a less invasive diagnostic option compared to fundus fluorescein angiography (FFA) for diagnosis and monitoring of disease progression.

Stage 4 Takayasu Retinopathy With Persistent Neovascularization.

Takayasu arteritis is a chronic, progressive, autoimmune, granulomatous, medium-to-large vessel-panarteritis. It may cause chronic ocular ischaemia that may be refractory to treatment. We report a case of stage 4 Takayasu retinopathy resistant to conventional treatments. The patient was a 22-year-old woman who was diagnosed with Takayasu arteritis when she first presented with claudication while chewing and swallowing for one month. The patient was found to be hypertensive, with a significant systolic blood pressure difference between the arms and non-palpable bilateral brachial and radial artery pulses. Angiogram imaging revealed abnormalities involving the left subclavian, bilateral common carotid and left internal carotid arteries. She was referred to the ophthalmology clinic, as she experienced bilateral recurrent transient visual loss six months after the diagnosis. Dilated fundus examination showed bilateral stage 2 Takayasu retinopathy, evidenced by the presence of dilated retinal veins with microaneurysms. Her eyes progressed to stage 4 Takayasu retinopathy with proliferative retinopathy within one year of immunomodulatory therapy, largely due to poor compliance. No signs of regression were observed after completion of bilateral pan-retinal photocoagulation (PRP) with ongoing immunosuppressive treatment.

Orbital Tumor As First Manifestation of Metastatic Renal Cell Carcinoma.

Orbital metastasis from renal cell carcinoma (RCC) is uncommon. Orbital tumor, as the first presentation of RCC, is rare as the majority of orbital metastases occur after a confirmed diagnosis of primary cancer. We report a case of the metastatic orbital tumor as the first manifestation of RCC, which presented with painless left eye proptosis for two months' duration, associated with blurring of vision and diplopia. Otherwise, the systemic review was unremarkable. Examination showed left eye non-axial proptosis with a pulsatile, multilobulated mass over the left supraorbital area extending to the left frontal region, limited ocular motility, and impaired optic nerve functions. CT of the orbit showed a mass arising from the left frontal and greater wing of the left sphenoid bone, with infiltration to the left lateral rectus, left superior oblique, and lacrimal gland. Further systemic investigation with CT thorax, abdomen, and pelvis revealed left RCC with para-aortic nodes, lungs, and bone metastases. The patient was planned for palliative care.

Neonatal eye screening for 203 healthy term new-borns using a wide-field digital retinal imaging system.

BACKGROUND: The current practice for new-born eye examination by an Ophthalmologist in Malaysian hospitals is limited to only preterm new-borns, syndromic or ill infants. Healthy term new-borns are usually discharged without a thorough eye examination. This study is aimed at determining the proportion and types of ocular abnormalities detected in purportedly healthy term new-borns. METHOD: This cross-sectional study is comprised of 203 participants, all purportedly healthy term new-born infants from the Obstetrics and Gynaecology ward at Hospital Kuala Lumpur over a 6 months period. The examination list includes external eye examination, red reflex test, and fundus imaging using a wide-field digital retinal imaging system (Phoenix Clinical ICON Paediatric Retinal Camera) by a trained Investigator. The pathologies detected were documented. The results were compared and correlated with similar studies published in the literature previously. RESULTS: Total ocular abnormalities were detected in 34% of the infants. The most common finding was retinal haemorrhage in 29.6% of the infants, of which 53.3% occurred bilaterally. Spontaneous vaginal delivery (SVD) remained the greatest risk factor which has nearly 3.5 times higher risk of new-borns developing retinal haemorrhage compared to Lower Segment Caesarean Section (LSCS). There was a 6% increased likelihood of developing retinal haemorrhage for every 1-min increment in the duration of 2nd stage of labour. CONCLUSION: Universal eye screening for all new-borns using a wide-field digital imaging system is realistically possible, safe, and useful in detecting posterior segment disorders. The most common abnormality detected is retinal haemorrhage.

Ab-Externo Implantation of XEN Gel Stent for Refractory Steroid-Induced Glaucoma After Lamellar Keratoplasty.

The hazy corneal donor-recipient interface after corneal transplant may cause difficulties when implanting the XEN gel stent via ab-interno approach. We aim to describe XEN gel stent implantation via ab-externo approach in refractory steroid-induced glaucoma after corneal lamellar keratoplasty. Under local anaesthesia, the XEN injector needle was inserted 7 mm behind the limbus with the bevel facing up, directly beneath the conjunctiva and advanced to the marked 2.5 mm scleral entry wound. The needle then pierced the sclera until the needle tip was just visible in the anterior chamber (AC). The slider was pushed until the tip of the XEN stent was seen in the AC. The needle was slowly withdrawn while still pushing the slider to complete stent deployment. Subconjunctival Mitomycin C 0.01% (30 µg/0.3 mL) was then injected posterior to the bleb. Three eyes of three patients with steroid-induced glaucoma after lamellar keratoplasty underwent XEN gel stent implantation via ab-externo approach placed at the superotemporal quadrant. Pre-operatively, all patients had uncontrolled IOP between 30-45 mmHg despite maximum medications and selective laser trabeculoplasty. After XEN gel stent implantation, IOP ranged between 10-17 mmHg with one or two topical antiglaucoma at 12 months. Complications include hypotony maculopathy, stent migration and hyphaema, all of which were successfully managed. Corneal graft remained clear at 12 months. XEN gel stent implantation via ab-externo approach is able to achieve good intraocular pressure (IOP) control without compromising cornea graft in patients with steroid-induced glaucoma after lamellar keratoplasty at 12 months.

Case Report: Ocular Tilt Reaction with Internuclear Ophthalmoplegia and Multiple Cranial Nerve Palsies.

SIGNIFICANCE: Ocular tilt reaction (OTR) is an abnormal eye-head postural reaction that consists of skew deviation, head tilt, and bilateral ocular torsion. Understanding of the pathway of the vestibulo-ocular reflex (VOR) is essential because this will help to localize the pathology. PURPOSE: The aim of this study was to report a case of OTR with contralateral internuclear ophthalmoplegia (INO) and fifth and seventh cranial nerve palsies. CASE REPORT: A 51-year-old gentleman with underlying diabetes mellitus presented with sudden onset of diplopia for 3 days. On examination, his visual acuity was 20/30 bilaterally without a relative afferent pupillary defect. He had a right OTR consisting of a right head tilt, a skew deviation with a left eye hypertropia, and bilateral ocular torsion (right excyclotorsion and left incyclotorsion) with nystagmus. He also had a left adduction deficit and right abduction nystagmus consistent with a left INO. Ocular examination revealed evidence of proliferative diabetic retinopathy bilaterally. Two days after the initial presentation, the patient developed left seventh and fifth cranial nerve palsies. MRI showed left pontine infarction and multiple chronic lacunar infarctions. There was an incidental finding of a vascular loop compression on cisternal portions of the left trigeminal, facial, and vestibulocochlear nerves. Antiplatelet treatment was started on top of a better diabetic control. The diplopia was gradually resolved with improved clinical signs. In this case, the left pontine infarction had likely affected the terminal decussated part of the vestibulocochlear nerve from the right VOR pathway, medial longitudinal fasciculus, and cranial nerve nuclei in the left pons. CONCLUSIONS: The OTR can be ipsilateral to the lesion if the lesion is before the decussation of the VOR pathway in the pons, or it can be contralateral to the lesion if the lesion is after the decussation. In case of an OTR that is associated with contralateral INO and other contralateral cranial nerves palsy, a pathology in the pons that is contralateral to the OTR should be considered. Neuroimaging study can hence be targeted to identify the possible cause.

The Relationship Between Long-term Use of Intranasal Corticosteroid and Intraocular Pressure.

PURPOSE: The purpose of this study was to investigate the association between long-term intranasal steroid use and intraocular pressure (IOP) elevation. PATIENTS AND METHODS: In total, 100 eyes from 50 patients on long-term intranasal steroids (>2 y) for allergic rhinitis and 90 eyes from 45 controls were included in this study. Patients on other forms of steroids and risk factors for glaucoma were excluded. IOP was measured and nonmydriatic stereoscopic optic disc photos were taken for each eye. The vertical cup-to-disc ratio and the status of the optic disc were evaluated. RESULTS: The mean IOP for intranasal steroids group was significantly higher (15.24±2.31 mm Hg) compared to the control group (13.91±1.86 mm Hg; P=0.000). However, there were no significant differences in the vertical cup-to-disc ratio and the status of glaucomatous optic disc changes between the groups. CONCLUSIONS: Prolonged use of intranasal steroids cause statistical significant increase in IOP in patients with allergic rhinitis although no significant glaucomatous disc changes were seen. We suggest patients on long-term use of intranasal steroid have a yearly eye examination to be monitored for IOP elevation and those with additional risk factors for glaucoma is closely monitored for glaucoma.

A negative waveform in the scotopic response in a patient with phosphoglycerate kinase deficiency: a visual electrophysiology report.

PURPOSE: Phosphoglycerate kinase (PGK) deficiency is an X-linked neurometabolic genetic disorder with variable systemic manifestations. So far, only one patient with retinal anomalies has been reported, but no visual electrophysiology findings were described. We report the first description of visual electrophysiology in a child with PGK deficiency. This provides further information for the site of involvement in the eye. METHOD: A case history of a nine-year-old boy with PGK deficiency is reported. RESULTS: This patient was diagnosed with PGK deficiency by screening soon after birth, as his mother was a known carrier of a PGK gene mutation. A bone marrow transplant was performed at the age of 9 months. He had two episodes of encephalopathy following the transplant but no acute episode of haemolysis. From the age of 6 years, his vision has been deteriorating. Visual electrophysiology results identified retinal involvement involving both rod and cone dysfunction. The visual evoked potential was normal. CONCLUSIONS: Retinal dystrophy may be one of the clinical manifestations of phosphoglycerate kinase deficiency.