Eye Reports

Discovery of a novel genetic variation in papillorenal syndrome

Irune Ortega Renedo — 2020-11-16

Renal coloboma syndrome or papillorenal syndrome is an autosomal dominant genetic disorder characterized by congenital renal and ocular disorders associated with variations in the PAX2 gene. In this case report, a 46-year-old gentleman presented for ocular examination in the setting of systemic hypertension. Past medical history included a kidney transplant due to renal failure. Fundus examination revealed bilateral optic nerve abnormalities with a large central excavation, with numerous vessels radiating from the periphery of the optic disc, consistent with the Morning Glory anomaly. Optical coherence tomography (OCT) disclosed substantial thinning of retinal nerve fiber layer. Genetic studies revealed the heterozygous variant c.398delC in the 3’ exon of PAX2 gene not previously described in the peer-reviewed medical literature (searched using MEDLINE and cross-referenced literature).

Correlation of the cholesterol-to-high-density-lipoprotein Castelli risk index-1 with the choroidal and retinal nerve fiber layer thickness in patients with diabetes mellitus without retinopathy

Zeynep Eylul Ercan — 2020-11-16

Purpose: To determine the choroidal thickness and retinal nerve layer (RNFL) thickness changes in patients with diabetes mellitus (DM) without retinopathy in relation to their glycated hemoglobin (HbA1c) and Castelli risk index-1 (CRI-1) levels.

Method: This study examined the right eyes of 340 subjects. CRI-1 was calculated as the total cholesterol divided by high-density lipoprotein cholesterol. Five groups of 68 eyes were defined as follows: Group 1, control group consisting of healthy subjects; Group 2, DM patients with HbA1c from 7% to 9%; Group 3, DM patients with HbA1c from 7% to 9% and CRI-1 greater than 4; Group 4, DM patients with HbA1c greater than 9.1%; and, Group 5, DM patients with HbA1c greater than 9.1% and with CRI-1 greater than 4. Optical coherence tomography (OCT) measurements were taken using enhanced depth imaging. Choroidal thickness (CT) and RNFL thickness were compared within groups.

Results: CT was found to be lower in all DM groups compared with healthy subjects. In all nasal areas, CT was significantly thinner in group 5 than group 4. RNFL loss was only seen in the inferior temporal quadrant of all DM patients compared with the control group. There was no statistically significant difference between subgroups in RNFL measurements.

Conclusion: CRI-1, which is a marker of combined dyslipidemia abnormalities, is in use to predict atherosclerotic changes in DM patients. This study determined the CRI-1 also correlates with the CT of diabetic eyes but not the RNFL, and it can be used as an additional criterion in ophthalmological follow-ups of diabetic patients.

Primary ocular sporotrichosis with granulomatous conjunctivitis

Hsin Yi Lee — 2020-11-16

Sporotrichosis is an infection which is caused by the dimorphic fungus Sporothrix schenckii. Primary ocular sporotrichosis is uncommon in non-endemic areas and may be easily misdiagnosed, leading to a delay in initiation of treatment. In this case report, a 15-year-old girl, who is a post renal transplant patient presented with left eye swelling and localized redness at the medial canthal region. She was initially treated with topical antibiotics but there was no improvement. The addition of topical steroids led to the development of multiple nodules with central ulceration. Examination of the left eye showed granulomatous conjunctivitis. The features were suggestive of sporotrichosis and she was empirically started on oral itraconazole. A biopsy of the lesion showed caseating granulomatous inflammation and fungal PCR tested positive for Sporothrix schenckii. Her symptoms and clinical findings completely resolved after 3 weeks on itraconazole; however, her liver function deteriorated, and patient opted to discontinue the medication.

Bird pecking ocular injury caused by a native Malayan bird

Logeswari Krishna — 2020-11-16

Eye injuries resulting from bird pecking are rare but may cause permanent blindness. We report a case of penetrating ocular injury following a peck by a white-breasted waterhen. A 13-year-old girl presented with painful visual loss in her left eye after being pecked by her pet bird. She sustained a central corneal laceration and traumatic cataract in her left eye. Primary closure of corneal laceration was performed without complication. Broad spectrum topical and intravenous antibiotics were administered. After two weeks, she developed a mature white cataract. Subsequently, she underwent lens aspiration with intraocular lens implantation. Her vision improved drastically from 20/2400 to 20/60. Precautions should be taken while handling birds, especially when children are handling birds, in order to prevent any ocular injury. Parents play a vital role in preventing their child from getting injured by birds.

Hemi-forehead lifting for upper eyelid and brow ptosis in neurofibromatosis type 1

Erol Havuz — 2020-11-16

A 63-year-old female patient presented with ptosis in the right eyelid, wrinkles in the right half of the forehead, and narrowing of visual field. She had been diagnosed with giant plexiform neurofibroma. In addition, she had painless, non-tender soft masses on her left shoulder and neck. The patient's ptosis and forehead wrinkles improved in the supine position but were more prevalent in the vertical position. She had undergone blepharoplasty in the previous year. She did not have any disease history other than mild ptosis in the right and a mass in the neck that was present since puberty but had grown within the last decade. Pretrichial hemi-forehead and brow lift for eyebrow ptosis and forehead wrinkles was planned and performed without any complications in the early postoperative period and no recurrence in the 18-month follow-up period.