Septo-optic dysplasia presenting with nystagmus, pseudo-disc edema, and fovea hypoplasia

Background: Septo-optic dysplasia (SOD) is a condition that affects the early development of the brain and eyes. It presents with a combination of optic nerve hypoplasia, brain midline structure abnormalities, and pituitary gland hypoplasia. Methods: This is a case report of a 4-year-old male who presented with low amplitude horizontal nystagmus and decreased visual acuity 20/60 OU. Further imaging and electrophysiology were conducted to classify the ocular presentation. Results: No iris transillumination was noted, but foveal hypoplasia and disc edema were evident on fundus examination. This prompted neurology consultation and MRI imaging. The MRI was consistent with the diagnosis of SOD showing hypoplasia of the optic nerves, chiasm, and tracts and an absent septum pellucidum, but with normal pituitary development and function. Lumbar puncture and intracranial pressure were normal. Genetic testing identified one pathogenic variant in the SLC45A2, indicating carrier status for oculocutaneous albinism type 4 (OCA4). Flash Visual Evoked Potentials (VEPs) were consistent with chiasm dysfunction or hypoplasia rather than the chiasmal misrouting of OCA. Conclusion: This case report further elaborates the phenotypic variation of SOD, with the finding of blurred disc margins, in the absence of the typical optic nerve double ring sign and with normal intracranial pressure. The findings of fovea hypoplasia and blond fundi lead to the suspicion of OCA either as a separate diagnosis with a second pathogenic variant in SCL45A2 not yet identified or in association with SOD. This case highlights the importance of electrophysiology to help distinguish chiasmal hypoplasia or dysfunction from OCA misrouting

Visual outcomes of the surgical rehabilitative process following open globe injury repair

BackgroundThe path of rehabilitation of an eye after open globe injury (OGI) may require multiple additional secondary surgeries after the initial repair. Although much has been studied regarding the outcomes of secondary surgeries after open globe repair, it can be challenging to understand the possible implications of the surgical rehabilitative process. This retrospective study considers the benefits of the required additional secondary surgeries for a consecutive series of OGI patients.MethodsOGI patients who had at least one additional surgery after the initial open globe repair (OGR) were studied retrospectively. Additional inclusion criteria included: follow up of at least 12 months since the initial injury and at least 3 months since their most recent surgery, and no additional planned interventions. Preoperative visual acuity was compared to final visual acuity. Additionally, the odds of achieving ambulatory vision (≥20/800) and reading vision (≥20/40) were calculated after each indicated consecutive surgery.ResultsA cohort of 74 eyes from 73 patients met our inclusion criteria. These patients underwent a mean of two additional surgeries. The mean logMAR VA improved from 2.3 (HM) at presentation to 1.4 (20/150), or a 9-line Snellen equivalent improvement. Upon reaching their final visit status, 50% of patients had achieved ambulatory vision and 30% of patients had achieved reading vision. The odds of achieving ambulatory vision after completion of all the rehabilitative surgical process compared to the vision prior to the secondary rehabilitative surgery were higher (OR: 19.1, 95% CI: 7.9 – 30.4, p = 0.0008) as were the odds of achieving reading vision (OR: 4.6, 95% CI: 0.2 – 9.0, p = 0.04). With subsequent second, third, and fourth additional surgeries, the odds of achieving either ambulatory or reading vision at the final visit compared to their preoperative visual acuities were not significant (p > 0.05) but the visual acuity continued to trend toward visual improvement.ConclusionApproximately 50% of individuals who required additional surgery at UMN achieved ambulatory vision and 30% achieved reading vision. The odds of visual improvement through the surgical rehabilitative process were very high, with the greatest gains generally achieved after the first surgery

Retinal Interventional Management of Blind Painful and Non-painful Eyes at Risk for Neovascular Glaucoma: Four Cases and Literature Review

Purpose: To review standard management of blind painful and non-painful eyes at risk for neovascular glaucoma, and report the management strategies of four cases. Method: Series of cases and literature review. Patients: The first two cases described are blind, painful eyes secondary to neovascular glaucoma, treated with intracameral bevacizumab injections. The third case, a blind, painful eye with uncontrolled glaucoma in a patient unsatisfied with her eye appearance due to white retained lens material at pupillary margin and a large prominent bleb, was treated with a combination of bleb revision, vitrectomy, lensectomy and endocyclophotocoagulation. The fourth case, a blind, non-painful eye with secondary radiation retinopathy at risk for neovascular glaucoma was treated with laser photocoagulation to prevent neovascular glaucoma and pain. Results: The first two cases of blind, painful eyes with neovascular glaucoma had reduction in neovascularization and pain after intracameral bevacizumab injections and/or laser therapy. The third case had resolution of pain and transient decrease in intraocular pressure after a combined surgery. The blind, non-painful eye in case 4 with a history of radiation retinopathy had stable intraocular pressure and no progression to neovascular glaucoma or pain. None of the four cases progressed to enucleation or evisceration. Discussion/Conclusion: Retinal interventional management should be considered in blind painful and non-painful eyes to help control symptoms, treat or prevent progression to neovascular glaucoma and prevention of enucleation or evisceration

Glaucoma pediátrico en la Fundación Oftalmológica de Santander

ResumenObjetivo: Describir los diferentes tipos de glaucoma infantil examinados y tratados en la Fundación Oftalmológica de Santander (FOS) Bucaramanga, COLOMBIA su presentación clínica, y evaluar los resultados quirúrgicos de las diferentes técnicas utilizadas: trabeculotomía, trabeculectomía y la combinación de trabeculotomía con trabeculectomía.Palabras clave: Glaucomas: infantil, congénito, juvenil, asociado a otras anormalidades congénitas y secundarios, presión intraocular, trabeculotomía, trabeculectomía

Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports

Abstract Background Knobloch Syndrome (KS) is a rare congenital syndrome characterized by occipital skull defects and vitreoretinal degeneration. Retinal detachment (RD) often occurs at the end of the first decade of life or later. Aside from occipital skull defects, central nervous system abnormalities are uncommon. Case presentations We report on two siblings with KS. The first, a seven month old male, presented with nystagmus and was found to have a serous RD and a tessellated retinal appearance. His sister had a history of multiple visual abnormalities and had a similar retinal appearance although no signs of RD, but retina staphylomas. Genetic testing performed on both siblings showed a mutation in COL18A1, diagnostic of KS. MRI of both siblings demonstrated polymicrogyria but did not show occipital defects. Conclusions Although several families with KS have been described previously, our case is noteworthy for several reasons. The RD observed in our first patient occurred at an early age, and we find evidence of only one patient with KS who had an RD identified at an earlier age. The findings of polymicrogyria are not characteristic of KS, and we found only a few previous reports of this association. Additionally, we review potential treatment options for this condition

Retinal Interventional Management of Blind Painful and Non-painful Eyes at Risk for Neovascular Glaucoma: Four Cases and Literature Review

Purpose: To review standard management of blind painful and non-painful eyes at risk for neovascular glaucoma, and report the management strategies of four cases. Method: Series of cases and literature review. Patients: The first two cases described are blind, painful eyes secondary to neovascular glaucoma, treated with intracameral bevacizumab injections. The third case, a blind, painful eye with uncontrolled glaucoma in a patient unsatisfied with her eye appearance due to white retained lens material at pupillary margin and a large prominent bleb, was treated with a combination of bleb revision, vitrectomy, lensectomy and endocyclophotocoagulation. The fourth case, a blind, non-painful eye with secondary radiation retinopathy at risk for neovascular glaucoma was treated with laser photocoagulation to prevent neovascular glaucoma and pain. Results: The first two cases of blind, painful eyes with neovascular glaucoma had reduction in neovascularization and pain after intracameral bevacizumab injections and/or laser therapy. The third case had resolution of pain and transient decrease in intraocular pressure after a combined surgery. The blind, non-painful eye in case 4 with a history of radiation retinopathy had stable intraocular pressure and no progression to neovascular glaucoma or pain. None of the four cases progressed to enucleation or evisceration. Discussion/Conclusion: Retinal interventional management should be considered in blind painful and non-painful eyes to help control symptoms, treat or prevent progression to neovascular glaucoma and prevention of enucleation or evisceration

Association of Optic Nerve Head Drusen with Best Vitelliform Macular Dystrophy: A Case Series

Purpose: To report the association of optic nerve head (ONH) drusen with Best vitelliform macular dystrophy (BVMD). Methods: Chart review. Patients: Five patients from 3 families. Results: Multimodal imaging and ophthalmic examination demonstrated findings consistent with ONH drusen, in association with BVMD, in 5 patients. Conclusion: We report the association of BVMD with ONH drusen in 5 patients. This combination has previously been reported only once. We recommend that patients with a diagnosis of BVMD undergo autofluorescence and ultrasound imaging of the optic nerve to help facilitate this diagnosis, as some ONH drusen can be buried