Ophthalmic findings in Cohen syndrome patient without subjective ophthalmic complaints: A case report.

RATIONALE: Cohen syndrome is a rare genetic disorder that can cause various symptoms, including ophthalmic manifestations that can significantly impact a patient's visual health and quality of life. PATIENT CONCERNS: We present the case of a 12-year-old boy diagnosed with Cohen syndrome who exhibited retinal degeneration and macular edema but could not express ophthalmic symptoms due to a developmental disability. DIAGNOSES: The patient was diagnosed with Cohen syndrome by a heterozygous mutation in the VPS13B gene by whole exome sequencing and referred to ophthalmology for an ophthalmic examination. INTERVENTION: Ophthalmologic tests, including visual acuity, intraocular pressure, slit lamp examination, fundus photography, and optical coherence tomography, were performed. OUTCOMES: Visual acuity and intraocular pressure were not measured due to poor cooperation, and no abnormal findings were observed on the slit lamp examination. However, peripheral retinal degeneration was observed in the fundus examination, and cystoid macular edema was observed in both eyes on optical coherence tomography. LESSONS: Regular ophthalmologic examination is important for patients with Cohen syndrome, especially those with developmental disabilities who may not be able to express their symptoms. Clinicians should be aware of the potential ophthalmologic manifestations of Cohen syndrome and the importance of timely diagnosis and management.

Dacryoendoscopic Findings in the Failed Silicone Tube Intubations without Dacryoendoscopy.

PURPOSE: To investigate the clinical characteristics and dacryoendoscopic findings and clinical efficacy of silicone tube intubation (STI) in the patients who referred to our center due to failed with conventional STI. METHODS: We retrospectively reviewed the medical records of 61 cases from 50 patients who underwent STI or endoscopic dacryocystorhinostomy using dacryoendoscopy from January 2016 to May 2021. Clinical characteristics, tear meniscus height, lacrimal irrigation test, dacryocystographic findings, dacryoendoscopic findings and surgical outcomes were evaluated. RESULTS: The study included 12 male and 38 female patients (mean age, 64.1 ± 13.2 years). In the preoperative lacrimal irrigation test, passage was found in 33 eyes (54.1%) and no passage in 28 eyes (45.9%). The causes of lacrimal duct obstruction were in the order of stenosis (31.1%), mucus (27.9%), membrane (24.6%), granulation (13.1%), and stone (3.3%), and the location were in the order of nasolacrimal duct (39.3%), lacrimal sac (36.1%), canaliculus (21.3%), and inferior meatus (3.3%). As for the characteristics of obstruction, the secretory type was 21 eyes (34.4%), and structural change type was 40 eyes (65.6%). The STI group consisted of 57 eyes (93.4%) and endoscopic dacryocystorhinostomy consisted of four eyes (6.6%). The overall success rate was 83.9%. Clinical results were correlated with dacryoendoscopic finding (p = 0.015), but not with lacrimal irrigation test or dacryocystography. The structural change type had a higher surgical success rate than the secretory type (84.4% vs. 66.7%, p = 0.015). In particular, the structural change type showed higher success rate than the secretory type below the lacrimal sac (95.5% vs. 61.9%, p = 0.034). CONCLUSIONS: STI using dacryoendoscopy has a higher surgical success rate than conventional STI since dacryoendoscopy provides direct visualization of nasolacrimal duct obstruction. It could be useful in increasing the surgical success rate in patients with structural changes below lacrimal sac.