Total Corneal Melt in Patient with Porphyria Cutanea Tarda in Presence of Another Risk Factor

Purpose: To report a case of two siblings affected by porphyria cutanea tarda (PCT) presenting with varying severity of ocular disease and evaluation of difference in the presence of risk factors.

Methods: Case report

Result: A 42-year-old Indian male diagnosed with PCT and history of daily intake of alcohol, presented with sudden decrease in vision of right eye. Examination showed perforated cornea surrounded by rim of 360-degree avascular necrotic sclera, with no evidence of infection.

Similar systemic history was present in his elder brother. He did not consume alcohol and presented with mere localized scleral thinning. Since the patient’s sibling acted as a natural control for the evaluation of alcohol as an independent risk factor, the difference in severity of disease can be explained on the basis of difference in alcohol intake.

Conclusion: In the presence of progression of the disease, other risk factors like intake of alcohol should be evaluated.     

Multiple Evanescent White Dot Syndrome Following Intradermal Influenza Vaccination

Purpose: To present a case report of MEWDS following an intradermal influenza vaccination.

Methods: Review of the clinical, laboratory, photographic, and angiographic records of a patient with MEWDS.

Results: 27-year-old female that presented to our clinic with photopsias OD. These symptoms began 2 weeks following an influenza intradermal vaccination.

Fundus examination and diagnostic testing were consistent with MEWDS.

Conclusion: While rare, MEWDS can occur following influenza vaccination.     

Evidence of retinal degeneration in Wolfram syndrome

Purpose: Wolfram syndrome is characterized by early onset diabetes mellitus, diabetes insipidus, deafness, and optic atrophy, but retinal degeneration has not been described as a major component of the phenotype. We present two cases with Wolfram syndrome and evidence of retinal degeneration.

Materials and Methods: Observational case series. Patients underwent complete ocular examinations as well as retinal imaging and electroretinography.

Results: Both patients had electroretinographic evidence of retinal dysfunction/degeneration in addition to optic atrophy with an otherwise normal-appearing retina.

Conclusions: Some patients with Wolfram syndrome have a mild retinal degeneration that may be a manifestation of the neuronal involvement that is present in this condition.     

Induction of Vogt-Koyanagi-Harada Disease by Interferon-Alpha and Ribavirin Treatment in Patients with Hepatitis C: A Case Report and Review of the Literature

Purpose: To describe a case of Vogt-Koyanagi-Harada disease (VKH) presenting in a hepatitis C patient after interferon-alpha (IFN-α) and ribavirin treatment.

Methods: A retrospective review of our patient and a review of the published literature.

Results: A 59 year-old man developed VKH after the four months of IFN-α and ribavirin therapy for hepatitis C. The patient’s VKH was controlled by systemic corticosteroids. The relationship between VKH and IFN-α is discussed based on the published literature.

Conclusions: VKH is a rare autoimmune complication triggered by interferon-alpha therapy; the T-cell modulatory properties of IFN-α possibly contribute to this association. Early diagnosis of VKH and aggressive systemic corticosteroid intervention are essential for this type of IFN-α -related autoimmune complication.     

Involutional entropion repair combining the modified Bick quick strip procedure with Quickert rotational sutures

Purpose: The purpose of the study was to determine the results of involutional entropion repair by combining the modified Bick strip procedure with Quickert rotational sutures.

Methods: A retrospective review of consecutive patients with involutional entropion who underwent repair by combined Bick and Quickert technique from January 2013 to December 2017 was performed.

Results: A total of 43 cases of involutional entropion repair were preformed in this time period. Fourteen eyelids of 12 patients had the combined procedure. There were no failures with a median follow-up of 29 months. Mean operative time, recorded in 10 patients, was 15 ± 2.2 minutes. Complications were minimal.

Conclusions: The combination of the modified Bick quick strip procedure and Quickert sutures requires minimal surgical dissection and provides excellent results for the treatment of involutional entropion.     

Adherence syndrome following inferior oblique anteropositioning – a case report

Introduction: We report a case of inferior oblique (IO) muscle adherence with fat adherence, which developed following unilateral IO anteriorization (IOAT).

Methods: A 14-year-old child with V pattern left exotropia, bilateral IO overaction, bilateral dissociated vertical deviation (DVD), and strabismic amblyopia (OS) underwent recess/resect procedure along with IOAT. He developed consecutive esotropia and drooping of upper eyelid with marked limitation of levoelevation (?4). Differential diagnoses of antielevation syndrome and adherence syndrome were considered.

On surgical exploration, forced duction test (FDT) was positive for elevation, left inferior oblique (LIO) muscle insertion was found anterior to the inferior rectus (IR) insertion along with fat adhesions which were released and IO muscle was reattached 3 mm behind and 2 mm lateral to IR insertion, along with advancement of left lateral rectus.

Results: Following resurgery, the patient had six prisms left esophoria and a hypotropia 9 prisms, with minimal limitation of levoelevation (?1). One month later, it was seen that the hypotropia had increased to 18 prism diopters and limitation of elevation was ?2.

Conclusions: Adherence syndrome is a rare and severe complication of IO weakening procedures. The initial postoperative improvement achieved in elevation and hypotropia in primary position was not maintained over subsequent follow-ups.     

Biopsy of recurrent nasolacrimal duct obstruction using sheath-guided dacryoendoscopy

Purpose: The purpose of this article is to present a novel technique, as well the histopathological findings, of dacryoendoscopic guided nasolacrimal duct (NLD) biopsy for recurrent nasolacrimal duct obstruction (NLDO).

Methods: This study involved subjects with recurrent NLDO. Direct endoscopic probing or sheath-guided endoscopic probing was used for the initial intubation in all treated eyes, and the stent had been removed at between 2 and 11 months (mean 3.5 months) post-intubation with dacryoendoscopic confirmation of patency and mucosal regeneration. Biopsy specimens were obtained by scraping the recurrent lesion by sheath advancement. Histopathological examination and immunohistochemical (IHC) staining were performed.

Results: In five patients (two males and three females, mean age: 71.2 ± 5.6 years [range: 61–78 years]) with recurrent NLDO, biopsy specimens were obtained from six ducts of six eyes, and stratified epithelium and a mixed inflammatory cell infiltrates were identified. IHC staining was positive for cytokeratin (CK)4 and CK13, and negative for paired box protein Pax-6.

Conclusions: This novel technique enabled a minimally invasive biopsy of the NLD to be obtained, and IHC staining indicated the presence of mucus epithelium, thus suggesting squamous metaplasia of the usual respiratory epithelium which likely occurs secondary to chronic inflammation.     

Temporomandibular Disorder: An Important Cause of Temporal Headache in Patients Unlikely to Have Giant Cell Arteritis

Introduction: Temporal headache often results in an Ophthalmology referral to rule out giant cell arteritis (GCA). When clinical suspicion of GCA is low, alternative diagnoses should be considered. Temporomandibular disorder (TMD) commonly causes a temporal headache.

Materials and Methods: Patients referred with a temporal headache attending the Friday emergency ophthalmology clinic from February to July 2017 were assessed for GCA using the American College of Rheumatology (ACR) diagnostic criteria and TMD using a validated screening questionnaire.

Results: Ten symptomatic patients presented and were screened for TMD during this period. Four had mild TMD, two moderate, and three severe. The mean TMD score in patients with less than 3 ACR GCA criteria was 14.75 (SD 4.03) versus 6.8 (SD 3.06) in patients with 3 or more criteria (p = 0.0075).

Conclusion: TMD is an important cause of a temporal headache in patients unlikely to have GCA. Onward referral to dentistry for further management may be merited.     

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

Background: Inherited retinal degenerations (IRDs) encompass a wide spectrum of genetic ocular diseases characterized by considerable genetic and clinical heterogeneity.

Methods: Complete ophthalmic examination and next-generation sequencing.

Results: We describe a patient with no family history of vision loss, who at the age of 28 years developed visual impairment consistent with a severe form of retinitis pigmentosa. Genetic testing by means of whole exome sequencing identified a homozygous variant in the gene IDH3A. To date, only three papers have reported mutations in IDH3A, in families with early-onset retinal degeneration with or without the presence of macular pseudocoloboma.

Conclusion: This study highlights the importance of including this rarely-mutated gene in the molecular diagnostic set-ups for IRDs, and further delineates the phenotypic spectrum elicited by mutations in IDH3A.     

Horizontal gaze palsy and progressive scoliosis with two novel ROBO3 gene mutations in two Jordanian families

Background: Horizontal gaze palsy and progressive scoliosis (HGPPS) is a rare autosomal recessive disorder due to mutations in ROBO3 gene. Patients have characteristic clinical and imaging findings. We report six patients from two families with this disorder with two novel mutations.

Materials and methods: One patient from a non-consanguineous family and five patients from extended consanguineous families were clinically and radiologically examined. Blood samples from the patients and their parents were obtained and all the coding exons and flanking intronic sequences of the ROBO3 gene were amplified and subjected to bidirectional DNA sequencing.

Results: All six patients had the characteristic clinical and radiological findings of HGPPS. Genetic testing showed two novel mutations including frame-shift and nonsense.

Conclusion: Two novel mutations in the ROBO3 gene were identified in two Jordanian families with six affected individuals. To our knowledge, this is the first molecular study of HGPPS in Jordan.     

Polymerase Chain Reaction and Goldmann-Witmer Coefficient Testing in the Diagnosis of Infectious Uveitis in HIV-Positive and HIV-Negative Patients in South Africa

Purpose: To use polymerase chain reaction (PCR) and Goldmann-Witmer coefficient (GWC) calculation to diagnose infectious uveitis.

Methods: Prospective cross-sectional study.

Results: Twenty-seven of 106 patients had positive PCR and/or GWC results on aqueous humor (AH) sampling and 15 of 27 (55.6%) were HIV-positive. Patients with non-anterior uveitis (NAU) were more likely to be HIV+ (p = 0.005). More than 1 possible pathogen was identified in 9 of 27 patients of whom 7 were HIV+. The final clinical diagnosis was discordant with AH findings in 9 of 27 cases. A positive EBV PCR result was associated with a discordant diagnosis (p = 0.001). All cases of herpetic anterior uveitis (42.9% HIV+) tested PCR-/GWC+ while all cases of herpetic NAU tested PCR+/GWC- (83.3% HIV+). All rubella virus cases were PCR+/GWC+.

Conclusion: PCR is useful to diagnose herpetic NAU in HIV+ patients while GWC is useful to diagnose herpetic anterior uveitis.     

Time Course of Subretinal Proliferation after Scleral Buckling for Rhegmatogenous Retinal Detachment Repair

Purpose: To observe course of subretinal proliferation (SRP) after scleral buckling (SB) for the rhegmatogenous retinal detachment.

Methods: Fundus photographs and serial optical coherence tomographies (OCTs) were retrospectively analyzed in 10 cases from 9 patients.

Results: Preoperative SRP locations were beneath the retina in six cases, intraretinal in one, and between the retina and retinal pigment epithelium (RPE) in one. One demonstrated SRP heterogeneity. Final SRP locations were intraretinal in two, on the RPE in seven, and beneath the retina in one. In two, the SRP invaginated into the retina while being absorbed.

Conclusions: Detached retina can be reattached following retinal break occlusion by SB, although the remaining SRP can disturb the reattachment. OCT images of SRP demonstrated various features. Before surgery, the SRPs were typically strand-like types located beneath the retina. Postoperatively, they were located on the RPE. In some cases, they invaginated into the retina.     

The ‘over-the-top’ modified Cutler–Beard procedure for complete upper eyelid defect reconstruction

Purpose: To describe the ‘Over-the-Top’ Modified Cutler Beard Procedure (OTTMCB) for complete upper eyelid defect reconstruction

Methods: This is retrospective case note review of four patients that underwent the OTTMCB procedure. This two-stage procedure comprises the replacement of the posterior lamella with a free tarsal graft from the contralateral upper eyelid, and the anterior lamella with a lower lid skin flap over the lower eyelid margin which is divided 2–4 weeks later.

Results: The procedure was undertaken for four patients with 75–90% upper eyelid defects from tumour excision surgery. One patient had post-operative dehiscence requiring debridement and resuturing and further reconstructive surgery 18 months later to improve the cosmesis and lagophthalmos. The other three patients had good functional and cosmetic outcomes.

Conclusions: The OTTMCB procedure replaces the anterior and posterior lamellae of the upper eyelid with ‘like-for-like’ tissues. It avoids some of the drawbacks of the original and other variations of the Cutler–Beard procedure and achieves a good cosmetic outcome.     

XEN Implant for Glaucoma Treatment: A Review of the Literature

Purpose: The purpose of this review is to summarize current knowledge on XEN implant for the treatment of glaucoma.

Methods: A comprehensive literature review has been performed regarding XEN implant and its use on glaucoma management. Forty-two articles were checked and 37 were found to be relevant. Out of them, 21 were excluded as being case reports and reviews and the remaining 16 were eligible for the purpose of our review.

Results: There was a significant reduction in intraocular pressure as well as in the number of medications needed in glaucoma patients treated with XEN implant either alone or combined with cataract surgery. In addition, combination of XEN implant with Baerveldt tubes has been shown to be beneficial in cases of refractory glaucoma, although complications may be present in this technique. Moreover, uveitic glaucoma may be a potential application of XEN implant.

Conclusions: XEN implant devices have been developed as a surgical alternative for glaucomatous patients and are expected to play an important role in the management of glaucoma in the future.     

Increased microvascular disease in X-linked and autosomal recessive Alport syndrome: a case control cross sectional observational study

Background: Retinal microvascular disease reflects, in part, poor blood pressure control and systemic microvascular disease contributes to renal failure progression. This study examined the retinal microvasculature in Alport syndrome.

Materials and Methods: Retinal images from 28 males and 28 females with X-linked Alport syndrome, and 13 individuals with autosomal recessive disease were reviewed retrospectively for microvascular/ hypertensive retinopathy (Wong and Mitchell classification), and small vessel calibre (using a computerised semiautomated method and revised Knudtson formula). Data were compared with age and gender-matched individuals with normal blood pressure and renal function.

Results: Microvascular/hypertensive retinopathy was more common in males and females with X-linked Alport syndrome than age- and gender-matched controls (23, 82% and 10, 36%, p < 0.01; and 21, 75% and 13, 48%, p = 0.05, respectively), and in individuals with autosomal recessive disease compared with controls (12, 92% and 16, 43%, p < 0.01). Moderate microvascular/hypertensive changes were present in males and females with X-linked or autosomal recessive disease but not controls.

Arteriolar calibre was reduced in males with X-linked disease (142.5 ± 18.7 µm, and 150.7 ± 10.1 µm, p = 0.046) and in autosomal recessive disease (133.5 ± 11.10 µm and 149.1 ± 10.6 µm, p < 0.0001).

Microvascular/hypertensive retinopathy and arteriolar narrowing in males with X-linked disease were not different after renal transplantation and before (p NS).

Conclusions: Microvascular/hypertensive retinopathy was more common and more severe in Alport syndrome than normotensive controls. Improved BP levels may further slow the rate of renal functional decline in Alport syndrome.     

Excision of nodular basal cell carcinoma involving the lower eyelid tarsal skin using a grey line-splitting,posterior lamella-sparing technique

Purpose: To describe a posterior lamella-sparing technique to resect nodular basal cell carcinoma involving the inferior part of the tarsal skin of the lower eyelid.

Surgical Technique: Excision of nodular basal cell carcinoma of the tarsal skin using a grey-line-splitting technique with preservation of the posterior lamella. Specimen was sent for frozen section control. Additional excision was performed in caseof irradicality. The defect was closed with a free skin graft from the ipsi- or contralateral upper eyelid.

Results: We show a case series of three patients with lower eyelid basal cell carcinoma and investigated radicality on histology, aesthetic outcome and clinical recurrence during a follow-up of 18 months. Pre, intra, and postoperative photographs were obtained. In all cases radicality was reached. In all patients, the skin graft was viable, with no recurrence after 18 months. Excellent aesthetic results were obtained.

Conclusion: Anterior lamellar resection of nodular basal cell carcinomas involving the tarsal lower eyelid skin using a grey line lid-splitting technique is a simple and one-step technique with good clinical outcome. It may avoid the morbidity associated with full thickness eyelid resection and might be useful for other, nonmalignant eyelid lesions.     

Revision eDCR using a superior pedicled mucosal flap

Background: Endoscopic dacryocystorhinostomies (eDCRs) show patency rates between 81% and 94%. However, dacryocystorhinostomy (DCR) failure and the need for revision remain a significant challenge. One of the principal challenges in revision eDCR is the need to surgically identify the correct osteotomy site and maintain long-term patency in the setting of previously instrumented and potentially scarred tissue. At the same time, the surgeon must assume that the blood supply to the commonly described anterior and posteriorly pedicled flaps has been compromised.

Objective: The objective of the study is to describe a novel flap technique for revision eDCR.

Methods: The superior based mucosal flap is a novel technique that provides a vascularized mucosa preserving technique in revision eDCR despite previous instrumentation of the lacrimal system. This technique provides wide exposure of the revision osteotomy site while simultaneously allowing a viable mucosal flap to be replaced at the conclusion of the procedure, thereby minimizing bone exposure and cicatricial restenosis.

Results: The authors have utilized this technique in 13 procedures with 100% positive identification of the lacrimal sac, a 0% complication rate, and a 100% success rate after a mean follow-up of 26.93 ± 10.33 months (range 6–35 months).

Conclusion: The eDCR using the superior pedicled mucosal flap provides excellent exposure of the maxillary bone and the lacrimal sac. This method preserves vascularity of the flap using a superiorly based pedicle which is typically inviolate during both open and endoscopic primary DCR. The mucosal flap can then be replaced, thereby minimizing bone exposure and optimizing patency.     

A giant dermoid cyst of the orbit

To describe a unique case of a non-germinomatous germ cell tumor, a giant orbital dermoid, present in adulthood.

A 31-year-old male presented in our clinic with gradual, painless, progressive proptosis in the left eye since 28 years associated with gradual loss of vision. The left eye showed gross proptosis. Ocular structures could not be made out. Computed tomography scan showed a well-circumscribed oval heterogeneous mixed solid and cystic lesion completely filling the left orbit with calcification. The differential diagnosis was that of either teratoma or optic nerve glioma.

The patient underwent excision of the lesion. Histopathology revealed a capsulated tumor with multiple cystic components filled with blood and eosinophilic material suggestive of a dermoid cyst.

Non-germinomatous germ cell tumors may present atypically in adults and neglected benign dermoid cysts can attain massive size mimicking malignant lesions.     

Surgical outcome and unusual complications of paediatric external dacryocystorhinostomy

Purpose: To report the surgical outcome of external dacryocystorhinostomy (DCR) in children treated for congenital nasolacrimal duct obstruction (CNLDO) at a single tertiary eye hospital.

Materials and Methods: The medical records of 44 consecutive paediatric patients who underwent external DCR with silicon tube intubation from January 2002 to December 2015 were retrospectively reviewed. Age at the time of surgery ranged from 2 to 12 years. Surgical success was defined as resolution of symptoms, normal tear film height, and negative fluorescein dye disappearance test. This study adheres to the principles outlined in the Declaration of Helsinki.

Results: Four patients had simultaneous bilateral surgery (9.1%). Four patients had redo surgery following previous unsuccessful DCR. The patients’ follow-up ranged between 2 and 10 years. There were no cases of serious immediate post-operative complications, but four children developed subcutaneous emphysema, and in two children operated before the age of 2.5 years agenesis of the ipsilateral upper canine was observed. Of the 42 patients who completed follow-up (46 eyes), 39 (43 eyes, 93.5%) had a successful result with complete cure of symptoms.

Conclusions: Paediatric external DCR can successfully treat CNLDO with a low rate of complications. As the bud of the upper canine may be very close to the site of the rhinostomy when this is performed before the age of 3, it cannot be excluded that the agenesis of the ipsilateral upper canine, an unusual finding in Caucasian populations, might be related to the size and the site of the rhinostomy.     

Readability Assessment of Online Uveitis Patient Education Materials

Purpose: To evaluate the readability of online uveitis patient education materials.

Methods: A Google search in November 2016 was completed using search term “uveitis” and “uveitis inflammation.” The top 50 websites with patient-centered information were selected and analyzed for readability using the Flesch–Kincaid Grade Level (FKGL), Flesch Reading Ease Score (FRES), Gunning FOG Index (GFI), and Simple Measure of Gobbledygook (SMOG). Statistical analysis was performed with two-tailed t-tests.

Results: The mean word count of the top 50 websites was 1162.7 words, and averaged 16.2 words per sentence. For these websites, the mean FRES was 38.0 (range 4–66, SD = 12.0), mean FKGL was 12.3 (range 6.8–19, SD = 2.4), mean SMOG score was 14.4 (range 9.8–19, SD = 1.8), and the mean Gunning FOG index was 14.0 (range 8.6–19, SD = 2.0).

Conclusions: The majority of online patient directed uveitis materials are at a higher reading level than that of the average American adult.