Focal choroidal excavation associated with nonmelanocytic iris tumor

Purpose To describe a unique unilateral association between an iris stromal tumor and a macular focal choroidal excavation. Case Description A 40-year old patient presented with a small iris tumor associated with a unilateral macular lesion disclosed during a routine ophthalmologic examination. The patient was asymptomatic and visual function was not affected. After clinical and instrumental evaluation, a diagnosis of nonmelanocytic undefined stromal tumor of the iris associated with macular focal choroidal excavation was made. The size and shape of the two lesions remained stable during a 7-year follow-up and the patient did not develop other signs. Conclusion The concurrent presence of a stromal iris tumor associated with focal choroidal excavation has never been reported. Further reports of this association are required in order to understand its exact pathogenesis.

Optic disc and choroidal metastases secondary to breast cancer: A case report

Aim: To report an uncommon case of optic disc and multiple choroidal metastases secondary to breast cancer, assessed with swept source optical coherence tomography (SS-OCT), fluorescein (FA), and infracyanine (ICGA) angiographies. Methods: Observational case report. Case presentation: A 40-year-old woman with history of left breast carcinoma presented with blurred vision in her right eye (RE). Her visual acuity was 1/20 in the RE and 10/10 in the left eye. Fundus examination of the RE showed a large yellowish elevation of the posterior pole and a particular whitish nodular papillary cluster protruding from the optic disc into the vitreous. Infrared imaging enhanced the papillary nodular infiltrates. Characteristic findings of choroidal metastasis were noted within the macular lesion on SS-OCT and ICGA. SS-OCT showed specific “lumpy bumpy” irregularity of the anterior surface of the choroid and elevated hyperreflective nodular lesions of the optic disc associated to peripapillary subretinal fluid. The papillary lesions appeared as a bunch of hypofluorescent dots on both FA and ICGA, and ultra-wide field FA was helpful clearly delimiting the large macular lesion. Besides, comprehensive imaging and especially ICGA could detect two asymptomatic choroidal metastases in a systematic assessment of the fellow eye. Conclusion: Optic disc metastases are extremely rare. Their diagnosis can be easily done on fundus examination when presenting with characteristic whitish cluster nodular infiltrates of the optic disc. However multimodal imaging remains very useful for the assessment of the local extension of the lesion and for diagnosing associated asymptomatic choroidal lesions gone unnoticed at the fundus examination.

Best Vitelliform Dystrophy; Pathophysiology, Findings, Diagnosis, and Treatment

Best vitelliform dystrophy is the second most common hereditary macular dystrophy. It is an early-onset, progressive disease with autosomal dominant inheritance. The BEST1 gene is located on the long arm of the 11th chromosome and is responsible for the production of a transmembrane protein called bestrophin-1. The disease takes its name from the classic egg yolk-like macular lesion. Its histopathology shows increased lipofuscin in retinal pigment epithelium (RPE), photoreceptor loss, sub RPE deposits, and cell and material accumulation in the subretinal area. As long as complications such as choroidal neovascularization, macular scar, and geographical atrophy do not develop, the disease has a relatively good prognosis. The aim of this review is to summarize the possible etiopathogenesis, examination findings, imaging and electrophysiology characteristics, and treatment approaches of Best vitelliform dystrophy in the light of current literature.

Acute Macular Neuro-retinopathy: a Rare Retinal Disorder, Presenting as Paracentral Scotoma

Acute Macular Neuro-retinopathy (AMN) is a rare clinical entity. We present a case of 26 years old male who presented with one-week old history of sudden onset of decrease vision in left eye associated with paracentral scotomas. Dilated fundus examination of the left eye showed multiple reddish brownish petalloid para-foveal lesions with apex pointing toward the fovea. OCT showed hyper-reflective bands in the Outer Nuclear Layer and Outer Plexiform Layer along with disruption of ellipsoid zones. Amsler grid drawn by the patient and the visual field showed scotoma corresponding to the macular lesion. The cause turned out to be undiagnosed essential hypertension. Purpose of presenting this case is that High Definition Optical coherence tomography (SD-OCT) makes diagnosis of some rare conditions easy and fast for an ophthalmologist, that might be misdiagnosed or missed with conventional OCT and FFA imaging test. Key Words: Acute Macular Neuro-retinopathy, Spectral Domain Optical Coherence Tomography, Paracentral Scotoma.

Measurement of the Active Toxoplasma Retinochoroiditis Lesion Size During the Disease Course With Swept Source Optical Coherence Tomography Angiography: A Retrospective Image Analysis

Purpose To measure the lesion size reduction in eyes with active toxoplasma retinochoroiditis during the disease course with swept- source optical coherence tomography angiography (SS-OCTA). Methods We retrospectively analyzed the chorioretinal lesion size in a group of 14 eyes with a single active toxoplasma retinochoroiditis lesion.SS-OCTA was performed at the baseline and follow -up in all eyes. The 6x6 mm choriocapillaris slab images were evaluated with an image analysis (Matlab). The number of black and white pixels in a 1500µm-diameter circle centered on each active lesion was counted at the time of baseline examination and at the first follow-up visit when the chorioretinal scar formation was noticed. Results Fourteen eyes with a single active toxoplasmosis retinochoroiditis lesion were included. Ten patients were female and three,male. Mean age was 29.1 ± 14.9 years. Active lesions were at the macula in five eyes, at the periphery in six eyes and juxtapapillary in three eyes. At the initial examination lesion area was observed as an area with a decreased flow signal on SS-OCTA.There was perilesional capillary disruption in superficial and deep capillary plexi together with a diffuse capillary network attenuation and non-detectable flow signal zones in the choriocapillaris slabs. In addition to sulfamethoxazole-trimethoprim and azithromycine combination oral corticosteroids were only co-administered in five (35%) eyes with macular involvement. The chorioretinal scar formation was observed in four to 16 weeks. At the time of inactivity, original lesion was diminished in size when compared to its baseline in all study eyes (p = 0.001) with a mean black pixel reduction percentage of 21.8%. The reduction was 15.4% in eyes with macular lesion, 31.6% with peripheral lesions and 18.1% with juxtapapillary lesions (p = 0.001, p = 0.032, p = 0.028, p = 0.043, respectively). Visual acuity was correlated with black pixel reduction percentage in eyes with macular lesion (r = 0.56, p < 0.001). Conclusion Active toxoplasma retinochoroiditis lesion size diminished with the healing process as expected and this could be monitorized with an OCTA based image analysis technique. Macular lesions showed less reduction in lesion size despite the addition of oral corticosteroids in contrast to peripheral and juxtapapillary lesions.

Stargardt and Fundus Flavimaculatus; Pathophysiology, Clinical Findings, Imaging Characteristics, and Diagnosis

Stargardt disease (STGD) is the most common form of recessively inherited macular dystrophy. It is characterized by the presence of an atrophic macular lesion, which is surrounded by irregular, white-yellow, deep retinal lesions (flecks). There is wide variability in age at onset, visual acuity, fundus appearance, and severity of the disease. Fundus examination can be normal but visual acuity can be reduced early in the course of the disease. In these patients, pattern electroretinogram (PERG) and fundus autofluorescence (FAF) will be helped in establishing the diagnosis of STGD. The typical sign of “choroidal silence” or dark choroid on fluorescein angiography (FA) is not present in all patients with STGD and is not specific to this condition.

Clinical manifestations and visual outcomes associated with ocular toxoplasmosis in a Brazilian population

Ocular toxoplasmosis is the leading cause of posterior uveitis worldwide. We conducted an observational study of 262 consecutive individuals (n = 344 eyes) with ocular toxoplasmosis who were followed over a 34-month period. Most subjects were T. gondii IgG + /IgM- (n = 242; 92.4%; 317 eyes), and 140 eyes (40.7%) had active lesions. For eyes in which retinal lesions were active at recruitment and best-corrected visual acuity (BCVA) could be measured (n = 133), 21.0% (n = 28) remained blind (BCVA below 20/400) after inflammation resolved. In these eyes, atypical ocular toxoplasmosis (OR 4.99; 95% CI 1.14–22.85; p = 0.0330), macular lesion (OR 9.95; 95% CI 2.45–47.15; p = 0.0019) and any complication (OR 10.26; 95% CI 3.82–30.67; p < 0.0001) were associated with BCVA below 20/200. For eyes with only inactive lesions at recruitment and BCVA measured (n = 178), 28.1% (n = 50) were blind. In these eyes, having at least one lesion larger than one disc-diameter (OR 6.30; 95% CI 2.28–22.46; p = 0.0013) and macular lesion (OR 5.69; 95% CI 2.53–13.54; p < 0.0001) were associated with BCVA below 20/200. Older age (OR 1.02; 95% CI 1.00–1.05; p = 0.0493) and active disease at presentation (OR 4.74; 95% CI 1.95–12.91; p = 0.0011) were associated with recurrences. Additional clinical attention should be directed towards patients with risk factors for poor visual outcome.

Melanosis of the Uterine Cervix: A Rare Case Report

Cervical melanosis is a rare entity in the spectrum of melanocytic lesions of uterine cervix. Melanosis is defined as presence of melanocytes in the basal layer of squamous epithelium causing hyperpigmentation. Authors here by report a case of 57-year-old female who underwent vaginal hysterectomy for third degree utero-vaginal prolapse, showed an incidental gross pathological finding of brownish macular lesion. Histopathological examination showed hyperpigmentation of basal layer without increase in melanocytes. On immunohistochemical examination, basal melanocytes were highlighted by S-100 and HMB 45 immunostains. Thus final diagnosis of cervical melanosis was made. Clinical differentials of cervical pigmented melanocytic lesions include cervical melanomas, blue nevi, congenital or traumatic lesions and melanosis, hence vigilant clinical, gross pathological examination and biopsy is warranted.