Faculty Bibliography

PURPOSE/OBJECTIVE:To describe the retinal findings in a 25-year-old white woman in whom a diagnosis of Boucher-Neuhäuser Syndrome (BNS) was supported by genetic testing, which identified a missense and novel nonsense mutation in the PNPLA6 gene. METHODS:Observational case report of a 25-year-old woman who presented with primary amenorrhea, cerebellar ataxia, and mild retinal pigmentary abnormalities. Neurologic, endocrine, and genetic evaluations established a diagnosis of BNS. RESULTS:Clinical examination and multimodal imaging documented focal outer retinal and retinal pigment epithelium changes including bilateral foveal stippling and a circular area of hypopigmentation in the superior macula of the left eye. Optical coherence tomography showed a linear area of outer retinal attenuation superonasal to the fovea and multiple foci of pinpoint outer retinal defects in the temporal macula of the left eye. Humphrey visual field 24-2 testing showed nonspecific defects in both eyes. Full-field electroretinography showed no evidence of a generalized retinal dysfunction. CONCLUSION/CONCLUSIONS:Recognition that the chorioretinal abnormalities occurring in BNS can be rather subtle is essential because the diagnosis of BNS may depend on their detection. To the best of our knowledge, this is the first report in the ophthalmic literature of mild chorioretinal changes in a patient with BNS testing positive for a mutation in the PNPLA6 gene.

Retinal phototoxicity induced by hand-held lasers is a burgeoning public health concern due to the wider accessibility of high-powered devices. Retinal damage from thermal energy can cause potentially severe and permanent vision loss in children and young adults who are particularly vulnerable because of co-morbid behavioral, learning, and psychiatric impairments. Understanding the spectrum of specific clinical and imaging features of such laser injuries aids in prompt and accurate diagnosis. Multimodal retinal imaging is important for the identification of the outer retinal abnormalities that characterize this condition. We reviewed 171 reported cases in the English and non-English language literature published from 1999, when hand-held laser injury was first described, to December, 2018. Risk factors, demographic and clinical characteristics, as well as multimodal imaging findings, were collected and summarized. These findings both provide insights for public health awareness and guide areas of future investigation.

The retinal capillary vasculature serves the formidable role of supplying the metabolically active inner and middle retina. In the parafoveal region, the retinal capillary plexuses (RCP) are organized in a system of three capillary layers of varying retinal depths: the superficial capillary plexus (SCP), intermediate capillary plexus (ICP) and deep capillary plexus (DCP). While the dynamic flow through these plexuses is complex and not completely understood, current research points to a hybrid model that includes both parallel and in series components in which blood flows in a predominantly serial direction between the superficial vascular complex (SVC) and deep vascular complex (DVC). Each capillary plexus autoregulates independently, so that under most conditions the retinal vasculature supplies adequate blood flow and oxygen saturation at varying depths despite diverse environmental stressors. When the flow in the deep vascular complex (i.e. ICP and DCP) fails, an ischemic lesion referred to as Paracentral Acute Middle Maculopathy (PAMM) can be identified. PAMM is an optical coherence tomography (OCT) finding defined by the presence of a hyperreflective band at the level of the inner nuclear layer (INL) that indicates INL infarction caused by globally impaired perfusion through the retinal capillary system leading to hypoperfusion of the DVC or specifically the DCP. Patients present with an acute onset paracentral scotoma and typically experience a permanent visual defect. Lesions can be caused by a diverse set of local retinal vascular diseases and systemic disorders. PAMM is a manifestation of the retinal ischemic cascade in which the mildest forms of ischemia develop at the venular end of the DCP, i.e. perivenular PAMM, while more severe forms progress horizontally to diffusely involve the INL, and the most severe forms progress vertically to infarct the inner retina. Management is targeted toward the identification and treatment of related vasculopathic and systemic risk factors.

BACKGROUND:To describe the clinical presentation and characteristic imaging features of deep retinal haemorrhages primarily located in the Henle fibre layer (HFL) of the macula. The spectrum of aetiologies and a comprehensive theory of pathogenesis are presented. METHODS:This is a retrospective, multicentre case series evaluating eyes with retinal haemorrhage in HFL. Clinical features, underlying aetiology, systemic and ocular risk factors, visual acuity, and multimodal imaging including fundus photography and cross-sectional and en face optical coherence tomography (OCT) are presented. RESULTS:Retinal haemorrhages localised to HFL in 33 eyes from 23 patients were secondary to acute blunt trauma to the head (n=2), eye (n=1) and trunk (n=1), ruptured intracranial aneurysm (Terson's syndrome, n=3), general anaesthesia (n=1), epidural anaesthesia (n=1), hypertension with anaemia (n=1), decompression retinopathy (n=1), postvitrectomy with intraocular gas (n=1), retinal vein occlusion (n=7), myopic degeneration (n=2), macular telangiectasia type 2 (n=1), and polypoidal choroidal vasculopathy (n=1). Defining clinical features included deep retinal haemorrhage with feathery margin and petaloid pattern radiating from the fovea. OCT demonstrated characteristic hyper-reflectivity from the haemorrhage delineated by obliquely oriented fibres in the Henle layer. Spontaneous resolution of HFL haemorrhage occurred after 3 months in 15 patients with follow-up. CONCLUSION/CONCLUSIONS:The characteristic petaloid-shaped, deep intraretinal haemorrhage with a feathery margin localised to HFL is associated with various disorders. The terminology 'Henle fiber layer hemorrhage (HH)' is proposed to describe the clinical and OCT findings, which may result from abnormal retinal venous pressure from systemic or local retinovascular disorders affecting the deep capillary plexus or from choroidal vascular abnormalities.

BACKGROUND:To analyse cellular and spatiotemporal factors of neurodegeneration and gliosis in a patient with submacular haemorrhage (SMH) secondary to type 1 macular neovascularization in neovascular age-related macular degeneration (nAMD). METHODS:This is a case study and clinicopathologic correlation of an 84-year-old white man with nAMD treated with antiangiogenic drugs and photodynamic therapy during a 6-year follow-up. Eyes were recovered for histology 8.23 h after death. In vivo multimodal imaging including optical coherence tomography (OCT) and en face modalities was compared with ex vivo OCT and high-resolution histologic images, using a custom image registration procedure. SMH components were defined (intraretinal, subretinal, sub-retinal pigment epithelium (RPE), and dehemoglobinized blood). Neurodegenerative changes in each of these areas were described. One anonymous donor eye with haemorrhagic nAMD was also reviewed as a comparator. RESULTS:By in vivo OCT, progressive resolution of the haemorrhage and gradual transformation of sub-RPE fluid to fibrous hyperreflective tissue, progressive macular atrophy, and variation in external limiting membrane (ELM) visibility were observed. Histology showed intense photoreceptor loss with preservation and self-adhesion of macular Müller glia resulting in ELM condensation. The comparator eye exhibited shed cone inner segments among subretinal erythrocytes. CONCLUSION/CONCLUSIONS:This is the most detailed clinicopathologic correlation of nAMD with SMH resolution to date, and the first in the OCT era. Our results reveal profound macular neurodegeneration and gliosis, signified by condensed ELM, soon after haemorrhage begins. Intensified OCT reflectivity of the ELM, an important retinal barrier, has potential as a biomarker for severe photoreceptor loss and gliosis.

This review article summarizes the patho-anatomy of the vortex veins, the major drainage channels for the choroid, and describes the various pathways of diseases associated with vortex vein abnormalities. This report also details the technical advancements to image the vortex veins, such as ultra-widefield indocyanine green angiography, which are critical to elucidate the importance of the vortices in various retino-choroidal disorders. Future applications of these advanced imaging systems to better understand the role of the vortex veins in health and disease are also discussed.

Misusing the selective laser trabeculoplasty (SLT) mode of capsulotomy-SLT systems to attempt capsulotomy causes severe, permanent macular injuries. We present a multimodal imaging injury analysis and detail engineering and administrative controls to prevent further injuries.