ABSTRACT
Introduction: This retrospective cohort study presents the epidemiology of severe firearm-related ophthalmic injury and the level of ophthalmology involvement in the multidisciplinary management of head-and-neck gunshot injuries. Methods: A retrospective study identified 207 patients with firearm-related injuries involving the head and neck treated at an Academic Tertiary Care Institution from 2010 to 2020. Results: Ophthalmology consulted on 29% of patients with head-and-neck firearm injuries. At least one of the services managing facial trauma (plastic surgery and otolaryngology) consulted on 71.5% of cases (P < 0.001). Of patients evaluated by ophthalmology, 93.3% survived to discharge; 78.2% of patients who were not evaluated survived to discharge (P = 0.009). Ophthalmology consulted on all patients with open globe injury (10.6%) (P < 0.001), all of which were evaluated by the facial trauma service (P = 0.002), 77.3% by otolaryngology (P = 0.42), 50% by neurosurgery, 36.4% by plastic surgery, 13.6% by orthopedic surgery, and 4.5% by vascular surgery. Ophthalmology consulted on 76.5% of patients with orbital fracture (32.9%) (P < 0.001); 83.8% were evaluated by the facial trauma service (P = 0.006), 69.1% by otolaryngology (P = 0.014), 54.4% by neurosurgery, 27.9% by plastic surgery, 10.3% by orthopedic surgery, and 2.9% by vascular surgery. For patients with orbital fractures, 92.3% survived when ophthalmology was consulted (P = 0.698); 43.8% survived when not consulted (P = 0.001). Conclusions: Firearm-related injuries of the head and neck frequently involve ocular and orbital structures, often causing serious vision-threatening injuries. Multispecialty management is common and early ophthalmology specialist evaluation and co-management are indicated to best identify ophthalmic injuries.
ABSTRACT
Purpose: To illustrate the importance of systemic evaluation in retinal dystrophies through examples of Alstrom syndrome, Bardet Biedl syndrome, and Refsum disease. Observations: Detailed eye evaluations, including visual acuity, visual field, slit lamp examination, and indirect ophthalmoscopy were performed. Retinal imaging included fundus photography and spectral domain optical coherence tomography (SD-OCT). Functional testing of the retina was done using full field electroretinography (ffERG). In addition, molecular genetic testing was performed using a ciliopathy panel, a retinal dystrophy panel, and whole genome sequencing (WGS).We report three individuals who presented with vision concerns first to ophthalmology, noted to have retinal dystrophy, and then referred to genomic medicine for genetic testing. Additional evaluation led to suspicion of specific groups of systemic disorders and guided appropriate genetic testing. The first individual presented with retinal dystrophy, obesity, and short stature with no reported neurocognitive deficits. Genetic testing included a ciliopathy panel that was negative followed by WGS that identified biallelic variants in ALMS: a novel frame-shift pathogenic variant c.6525dupT (p.Gln2176Serfs*17) and a rare nonsense pathogenic variant c.2035C > T (p.Arg679Ter) consistent with Alstrom syndrome. The second individual presented with retinal dystrophy, central obesity, and mild neurocognitive deficits. A ciliopathy genetic testing panel identified a homozygous pathogenic variant in BBS7: c.389_390del (p.Asn130Thrfs*4), confirming the diagnosis of Bardet Biedl syndrome. The third individual presented with progressive vision loss due to retinitis pigmentosa, anosmia, hearing loss, and shortened metatarsals and digits. Genetic testing identified two variants in PHYH: c.375_375del (p.Glu126Argfs*2) a pathogenic variant and c.536A > G (p.His179Arg), a variant of uncertain significance (VUS), suggestive of Refsum disease. Additional biochemical testing revealed markedly elevated phytanic acid with a low concentration of pristanic acid and normal concentrations of very long-chain fatty acids (C22:0, C24:0, C26:0), a pattern consistent with a diagnosis of Refsum disease. Conclusions and importance: In individuals who present with retinal dystrophy to ophthalmologists, additional systemic manifestations such as sensorineural hearing loss, anosmia, or polydactyly, should be sought and a positive history or examination finding should prompt an immediate referral to a clinical geneticist for additional evaluation and appropriate genetic testing. This facilitates pre-test genetic counseling and allows for more accurate diagnosis, prognosis, and management of affected individuals along with better recurrence risk estimates for family members. Identification of an underlying etiology also enhances the understanding of the pathophysiology of disease and expands the genotypic and phenotypic spectrum. Ultimately, successful recognition of these diseases facilitates development of targeted therapies and surveillance of affected individuals.
ABSTRACT
PURPOSE: To determine the spectrum of retinal complications (RCs) in a cohort of eyes with a type 1 Boston keratoprosthesis (KPro). METHODS: All patients (36 eyes of 31 patients) who received a type 1 Boston KPro from January 2004 to December 2015 at the University of California, Davis, were included. Electronic medical records were reviewed for relevant clinical data. Demographic information, initial corneal diagnosis, postoperative course, posterior segment complications, preoperative and final visual acuity were tabulated and analyzed. RESULTS: Posterior segment complications after type 1 Boston KPro were identified in 56% of eyes (n = 20). They included retinal detachment (n = 11; 31%), retroprosthetic membrane (n = 10; 28%), endophthalmitis (n = 7; 19%), cystoid macular edema (n = 5; 14%), epiretinal membrane (n = 4; 11%), vitreous hemorrhage (n = 2; 6%), choroidal detachment (n = 2; 6%), retinal vein occlusion (n = 1; 3%), and macular hole (n = 1; 3%). During the average follow-up period of 53.8 months (median, 57.1 months; range, 1.8-108.7 months) after type 1 Boston KPro, final best-corrected visual acuity improved by a mean of 0.12 logarithm of the minimum angle of resolution (LogMAR) units (range, -2.26 to +2.26) overall. The proportion of eyes with final best-corrected visual acuity better than 20/200 was 2 of 20 (10%) in the group with RCs, in contrast to 7 of 16 eyes (44%) noted among eyes without RCs. CONCLUSIONS: Long-term visual outcomes in eyes after type 1 Boston KPro may depend, in part, on maintaining a healthy posterior pole. Retinal detachment, in particular, may represent a threat to ultimate visual functioning. Regular examination of the peripheral fundus is recommended.
