Conjunctival lymphangiectasia and retinal angiopathy in hereditary transthyretin amyloidosis

Background Hereditary transthyretin amyloidosis (ATTR amyloidosis) is a rare condition where a mutation in the transthyretin gene leads to systemic deposition of amyloid. The manifestations and prognosis of ATTR amyloidosis depends on the specific ATTR mutation, with over 100 mutations reported in the literature. The manifestations of many rare forms of ATTR amyloidosis have not been well described, particularly the late-onset ophthalmic findings. Case presentation We present the case of a 43-year-old Caucasian male with a diagnosis of ATTRD18E amyloidosis confirmed by fat pad biopsy. He had diffuse systemic involvement, including cardiovascular, pulmonary, and gastrointestinal symptoms. He also had significant ocular involvement including vitreous opacities, retinal angiopathy, and conjunctival lymphangiectasia. These ocular findings modestly progressed at 2-year follow-up. Discussion The ATTRD18E mutation is a rare variant, with few described cases. To our knowledge, this is the first documented case of ATTRD18E amyloidosis with significant ocular involvement. These ocular findings may serve as a relevant biomarker for severe disease prognosis in ATTRD18E amyloidosis. With improving treatments addressing the systemic symptoms of ATTR amyloidosis, a better understanding of the late-onset ocular symptoms is becoming increasingly relevant.

Ocular findings in cats with blastomycosis: 19 cases (1978–2019)

OBJECTIVE To document ocular findings in cats with blastomycosis. ANIMALS 35 cats with blastomycosis. PROCEDURES Medical records from 1978 through 2019 were reviewed to identify cats with confirmed Blastomyces infection. Cats were grouped as having or not having ocular involvement. Clinical signs, histopathologic findings, and response to treatment were evaluated. RESULTS 21 of the 35 (60%) cats with confirmed blastomycosis had ocular abnormalities. Two of 21 cats with ocular abnormalities also had systemic hypertension and were excluded. Of the remaining 19 cats, 15 (79%) had bilateral ocular signs. Ten (53%) cats had inflammatory ocular lesions, and 9 (47%) had neuro-ophthalmic abnormalities. Six of the 19 (32%) cats appeared to be completely blind, and 5 (26%) appeared to be unilaterally blind. For the 10 cats with inflammatory ocular lesions, the most common lesions were anterior uveitis (9/20 eyes), active chorioretinitis (6/20 eyes), and retinal detachment (4/20 eyes). For the 9 cats with neuro-ophthalmic abnormalities, the most common abnormalities were a negative menace or tracking response (10/18 eyes) and negative pupillary light response (4/18 eyes). CLINICAL RELEVANCE Results suggested that ocular involvement is common in cats with blastomycosis and that both inflammatory lesions and neuro-ophthalmic abnormalities can be seen. Blastomycosis should be considered in the differential diagnosis for cats with anterior uveitis, posterior segment inflammation, or neuro-ophthalmic abnormalities, and a complete ophthalmic examination should be performed in all cats with confirmed or suspected blastomycosis.

Prevalence of ocular findings regardless of visual acuity status in older adults from the Brazilian Amazon Region

Recently, it has been recommended that population-based studies report not only frequencies of vision impairment and blindness but also any ocular abnormalities that might lead an individual to seek for eyecare services. The current study aimed to determine prevalence of ocular findings regardless of visual acuity (VA) status in older adults from the Brazilian Amazon Region. Disturbances were grouped into: Eyelids; Anterior Segment; Posterior Segment; Increased intraocular pressure; and Overall Globe. The presence of an ocular finding was considered positive when any abnormality was noted, regardless of VA. Refractive errors were not considered. A total 2384 eligible persons were enumerated and 2041 (85.6%) examined. The prevalence of ocular disturbances in either eye was 87.0% and was associated with male gender, older age, lower education, and rural residence. Overall, main findings were pterygium, cataract, and pinguecula, occurring in 58.8%, 45.4% and 17.4%, respectively. Among individuals with 20/20 VA in both eyes, the most frequent findings were pterygium, pinguecula, and glaucoma cupping, occurring in 47.4%, 31.2% and 6.5%, respectively. The high prevalence of ocular findings observed in this population reinforces that different conditions might not immediately decrease VA but can indicate risk and/or discomfort symptoms and should be considered when planning public health ophthalmic services.

Ophthalmic Manifestations of ANCA-Associated Vasculitis

Ocular manifestations in antineutrophil cytoplasmic antibody-associated vasculitis can be associated with the general or limited form of disease and can even occur in the absence of systemic disease. Ocular manifestations of associated vasculitis can be the first symptom of previously not manifested or undiagnosed systemic disease, allowing ophthalmologists to contribute to the diagnosis. Although its ocular findings are variable and nonspecific, the presence of necrotizing changes and peripheral corneal involvement accompanying scleral inflammation are important clues suggesting systemic vasculitis, especially associated vasculitis. The disease may affect all layers of the eye; scleritis and orbital involvement being the most common. Conjunctivitis, episcleritis, peripheral ulcerative keratitis, uveitis and retinal vasculitis are other ocular findings that may be observed during the disease course. Ocular involvement is most commonly seen in granulomatosis with polyangiitis followed by eosinophilic granulomatosis with polyangiitis and microscopic polyangiitis. Due to the high morbidity and mortality of associated vasculitis, it is very important to recognize the ocular manifestations of vasculitis as a sign of the underlying systemic disease and an indicator for the disease activity. Treatment varies depending on the location and severity of the ocular involvement. Although localized medical and surgical treatments can help to manage associated ocular disease, systemic immunosuppressive medications are often required to control the underlying disease. With the increasing availability and use of biological agents, prognosis has improved in patients with severe ocular complications. Rituximab appears to be useful in inducing remission and controlling relapses in patients with ocular involvement of associated vasculitis, particularly in cyclophosphamide resistant cases. A multidisciplinary approach in the diagnosis, treatment and follow-up of patients with associated vasculitis is required in order to achieve successful results.

P32 Relapsing polychondritis with anterior scleritis in young female

Case report - Introduction Relapsing polychondritis (RP) was first recognized as a clinical entity in 1923 by Jaksch-Wartenhorst (1923) and reported by him under the title "polychondropathia". The term "relapsing polychondritis" was first used by Pearson, Kline, and Newcomer (1960). Because the ocular findings can be the initial findings of RP, ophthalmologists should know the major ocular findings of this disease. Isaak et al reported that the most common ocular finding is episcleritis (39%) and the second is scleritis (14%). Other signs are iritis (9%), retinopathy (9%), muscle paresis (5%), and optic neuritis (5%). Case report - Case description A 45-year-old female with known rheumatoid arthritis referred by rheumatology in eye clinic due to blurred vision and dry eye. The patient was on hydroxychloroquine and sulfasalazine. No retinal toxicity was found on examination, OCT and Visual Fields. The vision was 6/6 both eyes. Follow-up was in 12 months. She presented 6 months later in casualty with severe pain in her right eye. Examination showed diffuse anterior scleritis with secondary conjunctival inflammation. Anterior chamber cells present. Posterior segment showed no inflammation. Left eye was unremarkable. She was started on Froben 100mg tds with omeprazole. She was seen after a week and condition was improving. She was asked to taper off the meds. Inflammation resolved with 6/5 vision in both eyes and the next appointment was made in a year to monitor for hydroxychloroquine toxicity. In November 2020 she was seen by ENT with inflammation of the right ear cartilage. The pictures showed that the pinna was spared and cartilage was only involved. There was nasal crusting and stuffy nose but without any respiratory symptoms. She was prescribed 50mgs of prednisolone and this helped with her inflammation. She was seen by rheumatology later on and hydroxychloroquine and sulfasalazine was stopped, and she was started on methotrexate 10mgs weekly and folic acid 5mg weekly. Pulmonary function test and echocardiogram was ordered. The case was discussed in MDT rheumatology and it was decided that if joint symptoms got worse than biologics could be started. Methotrexate increased to 15mg subcut. Echocardiogram was normal with satisfactory blood tests. Her next appointment is in October 2021. Case report - Discussion Initially the patient was diagnosed with rheumatoid arthritis with ocular inflammation (anterior scleritis) and was given the standard treatment of steroids to which the patient responded as well. Later when she developed the ear inflammation which involved only the cartilage the diagnosis was revised by rheumatology and changed to RP. As this is a rare life-threatening disease management was switched to immunosuppressive therapy to which she is currently responding well. Case report - Key learning points It is important to consider the possibility that a rheumatology patient may have more than one diagnosis or be open to the idea of revising the diagnosis as the clinical picture evolves over the time. Given the nature of the disease all the systemic features should be examined thoroughly as any one missed area can lead to delayed diagnosis.