Using a smartphone-based digital fundus camera for screening of retinal and optic nerve diseases in veterinary medicine: A preliminary investigation.

BACKGROUND: Ophthalmoscopy is a valuable tool in clinical practice. We report the use of a novel smartphone-based handheld device for visualisation and photo-documentation of the ocular fundus in veterinary medicine. METHODS: Selected veterinary patients of a referral ophthalmology service were included if one or both eyes had clear ocular media, allowing for examination of the fundus. Following pharmacological mydriasis, fundic images were obtained with a handheld fundus camera (Volk VistaView). For comparison, the fundus of a subset of animals was also imaged with a veterinary-specific fundus camera (Optomed Smartscope VET2). RESULTS: The large field of view achieved by the Volk VistaView allowed for rapid and thorough observation of the ocular fundus in animals, providing a tool to visualise and record common pathologies of the posterior segment. Captured fundic images were sometimes overexposed, with the tapetal fundus artificially appearing hyperreflective when using the Volk VistaView camera, a finding that was less frequent when activating a 'veterinary mode' that reduced the sensitivity of the camera's sensor. The Volk VistaView compared well with the Optomed Smartscope VET2. LIMITATION: The main study limitation was the small sample size. CONCLUSIONS: The Volk VistaView camera was easy to use and provided good-quality fundic images in veterinary patients with healthy or diseased eyes, offering a wide field of view that was ideal for screening purposes.

New Direct and Indirect Ophthalmoscopy Teaching Methodology for Veterinary Doctors.

Ophthalmic diseases can reflect the presence of systemic disease in animals. Thus, specialists in veterinary medicine must master the technique of fundus examination. To aid in the acquisition of this skill, we developed a teaching methodology using a low-cost model that students can build themselves and a device that allow for the examination of the animal's retina to teach the techniques of direct and indirect ophthalmoscopy in veterinary medicine.

Retinal structural and microvascular abnormalities in retinal dysplasia imaged by OCT and OCT angiography.

OBJECTIVE: To describe the in vivo structural characteristics of multifocal and geographic retinal dysplasia visualized with advanced retinal imaging including confocal scanning laser ophthalmoscopy (cSLO), optical coherence tomography (OCT), en face OCT, and the novel vascular imaging technique OCT angiography (OCTA). DOGS STUDIED AND PROCEDURES: Two dogs were diagnosed with unilateral multifocal or geographic retinal dysplasia and underwent advanced retinal imaging under general anesthesia at the Retinal Disease Studies Facility of the University of Pennsylvania. RESULTS: In both cases, the morphological pattern of the lesions was similar including outer retinal folds that invaginated and formed tubular retinal rosettes, surrounding a central inner retinal thickening (multifocal) or plaque (geographic). The two dogs had multiple vascular anomalies in the lesions such as increased tortuosity, abnormal change of vessel diameter including aneurysms and capillary network disruption. We also identified increased autofluorescence by AF cSLO with short wavelength light source (488 nm and barrier filter at 500 nm), and several areas of photoreceptor loss associated with the lesions. CONCLUSION: The use of OCTA allowed the identification of microvascular abnormalities associated with multifocal and geographic retinal dysplasia in two dogs. To our knowledge, this is the first report where the dye-free OCTA technique is used to study vascular lesions in canine retinas.

Building Clinical Skills Teaching Materials: A Study of Cognitive Task Analysis Versus Free Recall Instruction to Teach Canine Indirect Ophthalmoscopy.

Ophthalmoscopy is a core component of a complete ophthalmic examination. Due to its complex technical aspects and patients becoming uncooperative if the procedure is prolonged, it can be a difficult skill for a novice to learn and develop proficiency in. Skills instruction is typically provided by subject matter experts (SMEs) through free recall without an agreed-upon instructional framework. This can lead to unintentional omission of essential steps and knowledge required to perform skills correctly. Cognitive task analysis (CTA) allows for construction of standardized instructional protocols that encompass the knowledge and skills experts apply when performing tasks. The objectives of this study were to (a) develop a CTA-based teaching protocol for canine indirect ophthalmoscopy and (b) compare the steps verbalized or demonstrated by SMEs during free recall instruction versus those ultimately identified by CTA. Four SMEs participated in free recall instructional sessions and interviews used for the development of a CTA-based teaching protocol for novice learners. The CTA-based protocol identified 66 steps and sub-steps considered essential for successfully performing canine indirect ophthalmoscopy. During instructional sessions, SMEs on average failed to verbalize 57.1% of clinical knowledge steps, did not verbalize or demonstrate 68.3% and 9.5% of action steps, and did not verbalize or demonstrate 73.2% and 40.4% of decision steps, respectively. This study demonstrates that SMEs teaching indirect ophthalmoscopy by free recall may unintentionally omit important steps, suggesting that compared with free recall, CTA may generate more comprehensive and thus potentially more effective instructional materials for teaching technical skills in veterinary medicine.

In vivo imaging comparison of unilateral circular retinal plaques in retriever dogs to dysplasia and detachment in the English Springer Spaniel.

PURPOSE: To compare the scanning laser ophthalmoscopy (SLO), optical coherence tomography (OCT), and fluorescein angiography (FA) findings in retrievers with a single unilateral circular retinal plaque to those of an English springer spaniel with bilateral retinal dysplasia. PROCEDURES: A retrospective record review identified three dogs with circular retinal plaques that underwent SLO and OCT; in two of the three dogs, FA was also completed. Morphologic changes, lesion measurements, and angiogram characteristics were documented. An English springer spaniel with bilateral retinal dysplasia that had undergone SLO, OCT, and FA was used for comparison. RESULTS: Scanning laser ophthalmoscopy of the retriever dogs revealed circular retinal plaques with a dark periphery located in the tapetal retina. OCT revealed a thickening of the nerve fiber layer corresponding to the circular pattern observed on SLO. Within the circular plaque, the retina was predominantly of normal architecture. FA revealed variable hypofluorescence of both the rim and the center of the circular lesion throughout the early angiogram phases. In the late recirculation phase, small multifocal areas of hyperfluorescence were observed. OCT of geographic retinal dysplasia in the English springer spaniel revealed disorganization of both inner and outer retinal layers, and retinal detachment. CONCLUSIONS: Circular plaques observed in the tapetal retina are predominantly formed by a thickening of inner retina, while retinal dysplasia has disorganization of both inner and outer retinal layers. Further etiologic research is needed, including pedigree mapping to determine whether retinal plaques are an acquired or inherited condition.

Ophthalmic examination, biometry, and histologic findings in captive inland bearded dragons (Pogona vitticeps).

OBJECTIVE: To report ophthalmic examination, biometry, phenol red thread test (PRTT), intraocular pressure (IOP), and histologic findings from a private collection of inland bearded dragons (Pogona vitticeps). ANIMALS STUDIED: Fourteen inland bearded dragons. PROCEDURES: Complete ophthalmic examinations were performed on all animals, including slit-lamp biomicroscopy, indirect ophthalmoscopy, fluorescein stain, phenol red thread test, and rebound tonometry. B-mode ultrasonography was used to measure anterior chamber depth, axial lens thickness, vitreal chamber depth, and axial globe length. Horizontal corneal diameter was estimated using ImageJ software. Histologic assessment was obtained for one of the bearded dragons that died following the study period. RESULTS: The median PRTT value was 7.27 mm/15 seconds. Mean IOP was 6.29 ± 1.60 mm Hg and 2.14 ± 1.37 mm Hg using the dog and undefined calibration settings, respectively. Median axial globe length was 11.75 mm. Mean anterior chamber depth and mean lens thickness were 2.06 ± 0.35 mm and 3.38 ± 0.45 mm, respectively. Median vitreal chamber depth was 6.79 mm. Mean horizontal corneal diameter was 5.138 ± 0.346 mm. Two distinct ocular phenotypes were observed, with two of the bearded dragons having corneal globosa, deep anterior chambers, and tufts of iridal vessels and fibrillar material extending into the anterior chamber. CONCLUSIONS: The ultrasound biometry, PRTT, and rebound tonometry results may serve as a guideline for ophthalmic parameters in healthy bearded dragons. Examination and testing of greater numbers of animals are necessary to establish true reference ranges and determine if the observed ocular phenotypes represent normal variants or pathologic changes.

Retinal Features in Cynomolgus Macaques (Macaca fascicularis) Assessed by Using Scanning Laser Ophthalmoscopy and Spectral Domain Optical Coherence Tomography.

Cynomolgus macaques are an important and commonly used species in preclinical toxicology studies, but structural reports of in vivo retinal findings are rare in this species. The purpose of this study was to diminish this gap and document optical coherence tomography and scanning laser ophthalmoscopy imaging data in the healthy posterior pole of cynomolgus monkeys' eyes at predose examinations. The current study is a retrospective assessment of baseline spectral domain OCT data obtained from the 768 eyes of 384 cynomolgus monkeys (192 males and 192 females) of Mauritian origin. The data set was obtained from studies conducted over a 4-y period in the context of ocular safety evaluations of various compounds under preclinical development. The most prevalent findings were the presence of Bergmeister papilla and intravitreal hyperreflective spots. Less common findings included disorganization of retinal zones, abnormalities of the retinal vasculature, partial posterior vitreous detachment, and abnormally shaped foveal pits. Thoughtful consideration of these physiologic findings will aid in distinguishing normal features from toxic outcomes in future preclinical ophthalmic studies.

Normative ocular data for juvenile and adult Japanese quail (Coturnix japonica).

OBJECTIVE: To obtain normative ocular data for Japanese quail as they mature from juveniles to adults. ANIMALS STUDIED: Twenty-six captive Japanese quail comprising thirteen males and thirteen females, free of ocular disease, were included in the study. PROCEDURES: Ophthalmic reference values were measured in both eyes at 1 and 5 months of age. A complete ophthalmic examination was performed, including neuro-ophthalmic reflexes, slit lamp biomicroscopy, phenol red thread test (PRTT), rebound tonometry, fluorescein staining, horizontal corneal diameter measurement, indirect ophthalmoscopy, and ocular ultrasound biometry. Ultrasound biomicroscopy measurements of axial globe length, lens thickness, vitreal chamber length, and pecten length were recorded. The depth of the anterior chamber was calculated by subtracting the lens thickness and vitreous length from the axial globe length. Measures of association and descriptive statistics were analyzed using STATA-14 and STATA-15. RESULTS: Juvenile and adult females were heavier than age-matched males. Weight, intraocular pressure, horizontal corneal diameter, axial globe length, and lens thickness measurements increased with age. No statistically significant differences were found in the remainder of measurements among individuals in different sex or age-groups. CONCLUSIONS: This work provides reference values and clinical findings that can be used in future research on quail and ocular disease.

Canine and feline fundus photography and videography using a nonpatented 3D printed lens adapter for a smartphone.

OBJECTIVE: To describe an indirect funduscopy imaging technique for dogs and cats using low cost and widely available equipment: a smartphone, a three-dimensional (3D) printed indirect lens adapter, and a 40 diopters (D) indirect ophthalmoscopy lens. METHODS: Fundus videography was performed in dogs and cats using a 40D indirect ophthalmoscopy lens and a smartphone fitted with a 3D printed indirect lens adapter. All animals were pharmacologically dilated with topical tropicamide 1% solution. Eyelid opening and video recording were performed using standard binocular indirect ophthalmoscopy technique. All videos were uploaded to a computer, and still images were selected and acquired for archiving purposes. Fundic images were manipulated to represent the true anatomy of the fundus. RESULTS: It was possible to promptly obtain good quality images from normal and diseased retinas using the nonpatented 3D printed, lens adapter for a smartphone. CONCLUSIONS: Fundic imaging using a smartphone can be performed with minimal investment. This simple imaging modality can be used by veterinary ophthalmologists and general practitioners to acquire, archive, and share images of the retina. The quality of images obtained will likely improve with developments in smartphone camera software and hardware.

Feline Neovascular Vitreoretinopathy and Anterior Segment Dysgenesis With Concurrent Glaucoma in Domestic Cats.

Feline neovascular vitreoretinopathy (FNV) is a newly recognized rare condition affecting kittens and young domestic cats. This study investigated the clinical and pathologic findings in 22 cats with FNV. In affected cats, ophthalmoscopy of the fundus (when visible) revealed avascular peripheral retinae and epiretinal vascular membranes. Frequent nonspecific clinical findings were buphthalmos ( n = 21), medically uncontrollable glaucoma ( n = 22), and lenticular abnormalities ( n = 13). Anterior segment dysgenesis (ASD) was detected clinically in affected cats ( n = 6). The fellow eye was affected in 11 of 18 cats to a variable degree or appeared clinically normal in 7 of 18 cats. The globes were examined histologically and using immunohistochemistry for vimentin, glial fibrillary acidic protein (GFAP), synaptophysin, neurofilament, laminin, factor VIII-related antigen (FVIII-RA), and smooth muscle actin (SMA). Histologically, diagnostic features included laminin-positive epiretinal vascular membranes affecting the central retina, with an avascular peripheral retina and gliosis. Enucleated globes exhibited multiple additional abnormalities, including corneal disease ( n = 15), anterior segment dysgenesis ( n = 21), lymphoplasmacytic anterior uveitis ( n = 19), peripheral anterior synechiae ( n = 20), retinal degeneration ( n = 22), and retinal detachment ( n = 19). Gliotic retinae labeled strongly for GFAP and vimentin with reduced expression of synaptophysin and neurofilament, consistent with degeneration or lack of differentiation. While an avascular peripheral retina and epiretinal fibrovascular membranes are also salient features of retinopathy of prematurity, there is no evidence to support hyperoxic damage in cats with FNV. The cause remains unknown.

Multiple ocular developmental defects in four closely related alpacas.

OBJECTIVE: To describe the clinical, gross pathologic, and histopathologic findings for a visually impaired 5.8-year-old female alpaca with multiple ocular abnormalities, as well as the clinical findings for three closely related alpacas. ANIMALS STUDIED: Four alpacas. PROCEDURES: Ophthalmic examination was performed on a 16-month-old female alpaca following observation of visual impairment while hospitalized for an unrelated illness. Following acute systemic decline and death 4.5 years later, the alpaca's brain, optic nerves, and eyes were examined grossly and histologically. Ophthalmic examination of three closely related alpacas was subsequently performed. RESULTS: The 16-month-old female alpaca (Alpaca 1) had ophthalmoscopic findings suggestive of a coloboma or hypoplasia of the retinal pigment epithelium (RPE) and choroid, and suspected optic nerve hypoplasia OU. Histopathology performed 4.5 years later revealed moderate to severe choroidal, RPE, and retinal hypoplasia with multifocal retinal detachments OU. However, the optic nerves were normal in size and histologic appearance when compared to an age-matched control. Clinical evaluation of the 2-year-old son of Alpaca 1 revealed iris colobomata OU and choroidal dysplasia/hypoplasia OD in addition to nonpathologic variations in melanin density including heterochromia iridis and a subalbinotic fundus OU. Clinical evaluation of the 13-year-old mother of Alpaca 1 revealed heterochromia iridis, cataracts, and a subalbinotic fundus OU. A 2-year-old half-brother of Alpaca 1 had an RPE and choroidal coloboma OS. CONCLUSION: The developmental ocular abnormalities diagnosed in these closely related alpacas are likely hereditary.

The retina of the collared peccary (Pecari tajacu): structure and function.

OBJECTIVE: To study retinal morphology and function in the collared peccary, an ungulate species distantly related to the domestic pig. ANIMAL STUDIES: Twenty captive peccaries anesthetized for routine health examinations. Procedures No abnormalities were noted on a complete ophthalmic examination. Fundi were examined ophthalmoscopically and photographed. The eyes of an individual that died of unrelated, nonocular reasons were studied histologically and by immunohistochemistry. Scotopic, mixed rod-cone, and photopic electroretinography (ERG) responses were recorded using the 'QuickRetCheck' (n = 6) and 'Dog diagnostic' (n = 5) protocols of the Handheld Multispecies ERG (HMsERG). RESULTS: The fundus of the peccary is atapetal, with varying amounts of pigmentation seen ophthalmoscopically, and histologically in the retinal pigment epithelium (RPE) and choroid. The retina is holangiotic with dichotomously branching vessels. These cross, and apparently loop on, the optic disk surface, but no venous circle was seen. Immunohistochemistry suggests a high concentration of cone photoreceptors with red/green cones being more abundant than blue cones. Rod ERG responses were very low with no evident dark adaptation. Mixed rod-cone and cone ERG response amplitudes were low compared to those of domestic pigs, but quite similar to those of minipigs. CONCLUSIONS: To the best of our knowledge, this study describes the collared peccary's retinal features for the first time. A comparison of our findings with data from other ungulate species shows some similarities between the peccary and pig retinas. Further studies are warranted to determine whether the peccary can be used alongside the pig as an animal model in retinal studies.

Ophthalmic parameters in adult lowland paca (Cuniculus paca) raised in captivity.

OBJECTIVE: To investigate the ophthalmic parameters of lowland pacas, including the anatomic features, tear production, intraocular pressure, central corneal thickness, and morphology of the corneal endothelium. ANIMALS STUDIED: Thirteen adult, anesthetized Cuniculus paca. PROCEDURE: Eyes were evaluated using slit-lamp biomicroscopy, the Schirmer tear test I, digital applanation tonometry, binocular indirect ophthalmoscopy, and noncontact specular microscopy. RESULTS: The biomicroscopy findings showed blue/brown pigmented bulbar conjunctivae, well-developed cilia (only in the upper eyelid margin), superior and inferior lacrimal puncta, brown irides, round pupils, and vestiges of the nictitating membrane. The results of the Schirmer tear test I revealed (mean ± SD) a lacrimation rate of 4.10 ± 0.44 mm/min. The intraocular pressure was 6.34 ± 0.43 mmHg. Central corneal thickness measured by specular microscopy was 0.35 ± 0.01 mm. The mean values of density, hexagonality, and the area of the endothelial cells were 2083.15 ± 42.47 cells/mm2 , 67.07 ± 3.30%, and 486.30 ± 9.56 µm2 , respectively. CONCLUSIONS: The ocular parameters defined in this study may be used for reference in future studies and might also contribute to therapeutic approaches appropriate to this species.

The Equine Fundus.

Fundus is an anatomic term referring to the portion of an organ opposite from its opening, and the fundus of the eye is the back portion of the posterior segment of the globe, including the optic nerve, retina, and choroid. Clinically, the fundus can be visualized by direct or indirect ophthalmoscopy. Understanding the normal anatomy and appearance of the equine fundus is crucial for differentiating normal variations from abnormalities. This article reviews the normal anatomy and appearance of the equine fundus and discusses basic and advanced examination techniques. It also discusses common findings in the equine fundus and their interpretation.

Fundus photography with a smartphone in indirect ophthalmoscopy in dogs and cats.

OBJECTIVE: To introduce a simple method for fundus photography of dogs and cats using a smartphone and indirect ophthalmoscopy lenses. METHODS: Fundus photographs of dogs and cats with transparent ocular media were obtained with 15D, 20D, 28D, and 40D indirect lenses and an iPhone-6, in a dark room and after pharmacologic pupil dilation. The photographs were recorded as still images using a video application and a video-to-still image application. Two types of neutral density (ND) filters were used as required for reduction of the torch illumination power of the iPhone. RESULTS: The images obtained in this study were upside-down as a result of the optics used. A 180-degree rotation was used to show their natural anatomical orientation. The image field of view varied with the diopter strength of the indirect lens used. The 40-diopter lens offered the widest field. CONCLUSION: Still images obtained with a smartphone, and indirect lenses may be useful for client communication and teaching in small animal ophthalmology.

Ophthalmic diagnostic testing and examination findings in a colony of captive brown pelicans (Pelecanus occidentalis).

OBJECTIVE: To establish reference values and report ophthalmic examination findings in a colony of captive brown pelicans (Pelecanus occidentalis). DESIGN: Descriptive study. ANIMALS STUDIED: Sixty-three captive brown pelicans in Florida were examined. PROCEDURES: A complete ophthalmic examination including Schirmer tear test (STT), applanation tonometry, fluorescein stain, biomicroscopy, and direct and indirect ophthalmoscopy was performed. A-scan ultrasonography was performed to measure axial globe length (AGL), anterior chamber depth (ACD), lens thickness, and vitreal chamber length. Fifty-two adults and 11 juvenile pelicans with an age range of 4 months to 38 years were evaluated. RESULTS: Twenty-nine pelicans (46%) had a normal ocular examination. Mean STT in normal pelicans was 5.45 ± 1.88 mm/min. Mean intraocular pressure (IOP) in normal pelicans was 10.86 ± 1.61 mmHg. One pelican was fluorescein positive unilaterally. Mean AGL was 20.70 ± 0.62 mm. Mean ACD was 3.38 ± 0.19 mm. Mean axial lens diameter (ALD) was 5.19 ± 0.23 mm. Mean vitreal chamber depth (VCD) was 12.15 ± 0.53 mm. Twenty-three pelicans (36.51%) had cataracts, 17 pelicans (26.98%) had vitreal degeneration, 18 pelicans (28.57%) had corneal disease, and seven pelicans (11.11%) had evidence of significant ocular trauma, which included collapsed anterior chamber or lens luxation. CONCLUSIONS AND CLINICAL RELEVANCE: To the author's knowledge, this is the first report of normal ophthalmic parameters and the incidence and type of ocular disease in a captive flock of brown pelicans. This information may aid in the diagnosis and treatment of brown pelicans with ocular disease.

Retinal dysplasia in the crab-eating fox (Cerdocyon thous) / Displasia retiniana em cachorro-do-mato (Cerdocyon thous)

Previously described in humans and domestic animals, retinal dysplasia has three clinical forms: focal/multifocal, geographic and total. A young orphan crab-eating fox (Cerdocyon thous) from wildlife, male, approximately 45 days old referred to the Wildlife Medicine and Ophthalmology Services of the "Governador Laudo Natel" Veterinary Hospital of the Universidade Estadual Paulista, Jaboticabal Campus, SP, Brazil, where it received primary outpatient care. The patient was in good general health condition, without hematological, biochemistry or serological alterations and no signs of visual impairment. Indirect binocular ophthalmoscopy showed retinal changes in the left eye, distributed over the tapetal area in the form of grayish folds and rosettes. In the affected areas, tapetal reflectivity was reduced. No other ophthalmic abnormalities were observed. This is the first report of retinal dysplasia in the crab-eating fox (Cerdocyon thous) from wildlife.(AU)

Descrita no homem e em animais domésticos, a displasia de retina, se apresenta nas formas focal/multifocal, geográfica e completa. Um espécime de cachorro-do-mato (Cerdocyon thous) de vida livre, macho, com 45 dias de vida foi capturado e encaminhado aos Serviços de Medicina de Animais Selvagens e de Oftalmologia do Hospital Veterinário "Governador Laudo Natel" da Universidade Estadual Paulista ­ Unesp, Câmpus Jaboticabal-SP, Brasil, onde recebeu atendimento primário ambulatorial. O paciente apresentava-se em bom estado geral, sem alterações hematológicas e sorológicas, e não havia sinais de déficit visual. A oftalmoscopia binocular indireta mostrou alterações retinianas no olho esquerdo, distribuídas na área tapetal na forma de pregas e de rosetas de coloração acinzentada. Nas áreas acometidas, a reflectividade tapetal estava reduzida. Não foram observadas outras alterações oftálmicas. Trata-se do primeiro relato de literatura sobre displasia retiniana em cachorrodo-mato (Cerdocyon thous).(AU)

Characterization of an Early-Onset, Autosomal Recessive, Progressive Retinal Degeneration in Bengal Cats.

PURPOSE: A form of retinal degeneration suspected to be hereditary was discovered in a family of Bengal cats. A breeding colony was established to characterize disease progression clinically, electrophysiologically, and morphologically, and to investigate the mode of inheritance. METHODS: Affected and related cats were donated by owners for breeding trials and pedigree analysis. Kittens from test and complementation breedings underwent ophthalmic and neuro-ophthalmic examinations and ERG, and globes were evaluated using light microscopy. RESULTS: Pedigree analysis, along with test and complementation breedings, indicated autosomal recessive inheritance and suggested that this disease is nonallelic to a retinal degeneration found in Persian cats. Mutation analysis confirmed the disease is not caused by CEP290 or CRX variants found predominantly in Abyssinian and Siamese cats. Ophthalmoscopic signs of retinal degeneration were noted at 9 weeks of age and became more noticeable over the next 4 months. Visual deficits were behaviorally evident by 1 year of age. Electroretinogram demonstrated reduced rod and cone function at 7 and 9 weeks of age, respectively. Rod responses were mostly extinguished at 14 weeks of age; cone responses were minimal by 26 weeks. Histologic degeneration was first observed at 8 weeks, evidenced by reduced photoreceptor numbers, then rapid deterioration of the photoreceptor layer and, subsequently, severe outer retinal degeneration. CONCLUSIONS: A recessively inherited primary photoreceptor degeneration was characterized in the Bengal cat. The disease is characterized by early onset, with histologic, ophthalmoscopic, and electrophysiological signs evident by 2 months of age, and rapid progression to blindness.