Digital Journal of Ophthalmology

Stellate iris pattern and retinal arteriolar tortuosity in Williams-Beuren syndrome

2024-04-05T02:53:15-07:00

A 15-year-old boy with Williams-Beuren syndrome (WBS; OMIM #194050) presented for routine ophthalmic examination and was found to have stellate iris pattern and retinal arteriolar tortuosity. WBS is a rare autosomal dominant disorder caused by hemizygous microdeletion of approximately 1.5-1.8 million base pairs on chromosome 7q11.23, a region containing 26-28 genes, including the ELN gene responsible for encoding elastin, an essential component of elastic fibers throughout the body. WBS is a multisystem disorder characterized by dysmorphic features, supravalvular aortic stenosis, intellectual deficiency, hypersocial behavior, and hypercalcemia. Ophthalmological involvement in WBS includes stellate iris pattern, strabismus, hyperopia, and retinal vascular tortuosity. The stellate pattern is more easily identified in lighter irides and is due to prominent Fuchs’ crypts, iris stromal hypoplasia, and iris collarette absence or hypoplasia. Alternatively, the iris collarette may be peripherally displaced or have a lacy appearance.

Drusen in systemic argyrosis seen on scanning laser ophthalmoscopy

2024-01-20T03:16:34-08:00

A 67-year-old woman with systemic argyrosis presented at the ophthalmology clinic at Centre Hospitalier Intercommunal de Créteil with myodesopsia and photopsia. On examination, her best-corrected visual acuity was 20/25 in the right eye and 20/20 in the left eye. Slit-lamp examination was normal apart from grayish conjunctival discoloration. Fundus examination revealed a large pattern of shiny deposits surrounding the posterior pole of both eyes. Retro-mode imaging with the Mirante scanning laser ophthalmoscope (Nidek; Gamagori, Japan) yielded distinct observations of drusenoid deposits. As its annular aperture diverges laterally from the illumination path established by the confocal aperture, the device gathers backscattered light from a specific direction while obstructing light from other directions. The scattered light that traverses through the deflected aperture casts a shadow on the abnormal features, thereby augmenting their contrast and definition. The appearance of lesion shadows varies depending on the laterality of the annular aperture, with both right-deviated (DR) and left-deviated (DL) annular apertures. In DL position, extensive drusenoid deposits were visible on the right and left eyes, whereas in right illumination, these deposits were no longer discernible.

Sutureless 25+ gauge phacovitrectomy with in-the-bag IOL implantation for small intraocular foreign body extraction through clear cornea: optimizing visual recovery

2024-01-23T18:44:34-08:00

A 38-year-old man presented urgently at Clofán Clinic, Medellin, with sudden vision loss in the left eye after ocular trauma while hammering. On examination, visual acuity was light perception, there was a total cataract, and the paracentral anterior lens capsule was ruptured and had a rust-colored hue. A metallic foreign body was found within the vitreous cavity, and removal was attempted under peribulbar anesthesia in the following manner (see Video). A 2.2 mm clear corneal incision was made, facilitating cataract extraction while preserving the remaining capsular bag. This procedure was complemented by anterior vitrectomy and meticulous regularization of the posterior capsular rupture caused by the foreign body, creating a posterior circular capsulorhexis. Subsequently, a transconjunctival self-sealing three-port 25-gauge pars plana vitrectomy was performed. On identification of the foreign body, a delicate posterior vitreous detachment was induced and followed by comprehensive vitrectomy that aimed to free all surrounding tissues. Employing intraocular forceps, the foreign body was grasped perpendicular to its long axis and lifted into the anterior chamber through the posterior capsular opening. Using a precise bimanual technique with two forceps (25+ REVOLUTION DSP, serrated forceps, Alcon, Geneva, Switzerland, the foreign body was extracted through the clear corneal incision. Subsequent steps included intraocular lens (IOL) implantation within the capsular bag, a thorough retinal examination, air-fluid exchange, confirmation of ocular tone, self-sealing sclerotomies, and corneal incisions, ultimately concluding the surgery without complications. Postoperative recovery was rapid, with a final visual acuity of 20/20 without further complications.

Pseudo-cilium of the punctum: an unusual foreign body

2023-12-30T22:45:44-08:00

A woman in her 40s presented to the ophthalmology outpatient department at AIIMS, Bilaspur, India, with foreign body sensation and watering in her left eye. There was no history of trauma, surgery, medication, or systemic disease. On examination, visual acuity was 6/6 in each eye. Intraocular pressure was normal. On slit-lamp examination, mild redness and chemosis of the nictitating plica semilunaris membrane and adjacent bulbar conjunctiva were present, and there was an inward-directed cilium from the upper eyelid (A, slit lamp photograph under diffuse illumination and low magnification) rubbing the conjunctiva, with localized injection. On lifting the upper eyelid to further evaluate, a cilium was observed emerging from the upper punctum, rubbing against the bulbar surface (B, under high magnification; same eyelash seen on everting lid margin). There was no associated inflammation of the punctum, skin or conjunctiva overlying the canaliculi or sac. The eyelash was removed effortlessly using epilation forceps following application of topical proparacaine 0.5% ophthalmic solution. The smooth extraction of the hair follicle indicated that it was not firmly rooted but merely lodged within the lacrimal punctum. This case highlights the importance of a careful slit-lamp examination of eyelid margins and ocular surface in areas of localized redness in patients presenting with the feeling of foreign body sensation, epiphora, or irritation.

“Low-fat” intradermal spindle cell lipoma of the upper eyelid: a case report

2025-01-01T13:43:13-08:00

Spindle cell lipomas are slow-growing, benign tumors composed of bland spindle cells, adipocytes, and collagen bundles. They are typically found on the posterior neck, shoulder, or upper back. Spindle cell lipomas represent only a small percentage of reported lipomatous tumor types. We report the case of a 90-year-old white man who presented with a solid mobile lesion on his right upper eyelid. Histopathological and immunohistochemical analysis of the lesion led to a diagnosis of a “low-fat,” intradermal, spindle cell lipoma. This case underscores the importance of considering spindle cell lipoma in the differential diagnosis for atypical eyelid lesions.