Oculus Uterque Research Articles

Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis.

The goal of the study was to search for novel bi-allelic CRB1 mutations, and then to analyze the CRB1 literature at the genotypic and phenotypic levels. We screened various variables such as the CRB1 mutation types, domains, exons, and genotypes and their relation with specific ocular phenotypes. An emphasis was given to the bi-allelic missense and nonsense mutations because of their high prevalence compared to other mutation types. Finally, we quantified the effect of various non-modifiable factors over the best-corrected visual acuity oculus uterque (BCVA OU) using multivariate linear regression models and identified genetic interactions. A novel bi-allelic missense in the exon 9 of CRB1; c.2936G > A; p.(Gly979Asp) was found to be associated with rod-cone dystrophy (RCD). CRB1 mutation type, exons, domains, and genotype distribution varied significantly according to fundus characteristics, such as peripheral pigmentation and condition, optic disc, vessels, macular condition, and pigmentation (P < 0.05). Of the 154 articles retrieved from PubMed, 96 studies with 439 bi-allelic CRB1 patients were included. Missense mutations were significantly associated with an absence of macular pigments, pale optic disc, and periphery pigmentation, resulting in a higher risk of RCD (P < 0.05). In contrast, homozygous nonsense mutations were associated with macular pigments, periphery pigments, and a high risk of LCA (P < 0.05) and increased BCVA OU levels. We found that age, mutation types, and inherited retinal diseases were critical determinants of BCVA OU as they significantly increased it by 33% 26%, and 38%, respectively (P < 0.05). Loss of function alleles additively increased the risk of LCA, with nonsense having a more profound effect than indels. Finally, our analysis showed that p.(Cys948Tyr) and p.(Lys801Ter) and p.(Lys801Ter); p.(Cys896Ter) might interact to modify BCVA OU levels. This meta-analysis updated the literature and identified genotype-phenotype associations in bi-allelic CRB1 patients.

Topiramate: Connecting dot of acute angle closure with myopic shift and missing link with acute anterior uveitis

An interesting case of a 38-year-old male who presented with bilateral, sudden onset, painful diminution of vision. He had raised intraocular pressure (IOP), Oculus Uterque (OU) and bilateral acute onset myopia. Ultrasound biomicroscopy (UBM) revealed bilateral (B/L) ciliochoroidal effusion. This made us revisit his history to justify the acute onset myopia associated with raised IOP, which was established to be Topiramate (TPM) induced. Fourteen days after withdrawal of TPM, he also developed unilateral acute non-granulomatous anterior uveitis that was managed conservatively. Finally, his uncorrected visual acuity was 6/6 OU, and IOP was normal without any drugs. This case illustrates the significance of meticulous history and a step-wise approach to clinch the diagnosis. It is also imperative for clinicians to recognize these conditions and educate patients about the serious adverse effects when prescribing TPM.

Acute central serous chorioretinopathy after prolonged application of topical minoxidil: A case report and review of the literature

We report a case of a young man aged 38 years who complained of seeing a black spot in front of his left eye Oculus sinister (OS) for 5 days. He had been applying minoxidil topically for the treatment of androgenic alopecia for 8 months. Both eyes’ Oculus uterque (OU) anterior segments were within normal limits. The OS posterior segment showed subretinal fluid (SRF) in association with a serous pigment epithelium detachment (PED). He was diagnosed with acute central serous chorioretinopathy (CSCR) secondary to the prolonged use of topical minoxidil. He was advised to cease minoxidil application as a first line of treatment. He followed up for 3 months, the SRF was observed to decrease at every follow-up, and the best-corrected visual acuity (BCVA) improved from 6/9, N6 to 6/6, N6. CSCR associated with topical minoxidil use is a rare entity, and a treating dermatologist must counsel the patient regarding the same while initiating the treatment.

Peripheral sterile corneal infiltrate after cross linking in keratoconus: A case report

Aims/Purpose: The aim of our work is to describe the clinical aspect of sterile corneal infiltrates after cross linking and to evaluate the risk factors involved in their occurrence.Methods: We report the case of a young girl, followed for bilateral keratoconus having made a cross linking which was complicated by sterile catarrhal infiltrates.Results: This is a 15 years old girl, followed for allergic conjunctivitis with notion of self‐medication. The ophthalmological examination on admission found a visual acuity with correction counting fingers at 1 metre in oculus uterque (OU), some conjunctival papillae, minimal blepharitis, clear cornea, cortico‐nuclear cataract ocular tone was 10 mmHg in OU, normal fundus in OU. A corneal topography was performed showing signs of bilateral keratoconus classified as stage III according to the Krumeich classification. An emergency cross linking was indicated in OU starting with the OL, the patient was put on a topical antibiotic treatment, artificial tears with a daily control. At 4 days post‐op, the cornea had completely re‐epithelialized with the presence of a slight central haze and the appearance of 2 inferior stromal opacities of 1 mm/1 mm associated with a crescent infiltrate and 2 similar superior stromal opacities taking the fluorescent in front of the free edge. A corneal swab was taken for bacteriological, mycological and parasitological study and came back negative. The patient was initially put on ceftazidime and vancomycin based eye drops with a blepharitis treatment based on azyter collyrium lavage and artificial tear. The examination 48 h later showed persistence of stromal opacities without taking fluo. A local corticosteroid therapy was started with strict monitoring. The evolution was marked by an almost total regression of the stromal opacities and a disappearance of the central haze. The diagnosis of sterile infiltrate was made in view of the marked clinical improvement under local corticosteroid therapy and the absence of germs in the corneal sample.Conclusions: Evaluation of risk factors showed that epithelial injury may be the common pathway in pathogenesis, as no sterile infiltrate in Epi‐on CXL occurred, and postoperative NSAIDs use increased the risk of developing sterile infiltrates approximately fourfold.

Monovision in a case of bilateral high hyperopia by refractive lens exchange with customised foldable IOL

This case report describes about the feasibility of monovision in a case of bilateral high hyperopia for achieving spectacle independence following refractive lens exchange (RLE) A 19-year male presented with diminution of vision (DOV) since 15 years oculus uterque (OU). On examination, unaided distance visual acuity (UDVA) was 20/1000 in OU and corrected distance visual acuity (CDVA) was 20/125, N18 with a refraction of +12.25DS/+1.25DC (DS: Dioptre sphere, DC: Dioptre cylinder) @140 degrees in oculus dexter (OD) and +12.75DS/+1.50DC @25 degrees in oculus sinister (OS). Primary diagnosis was high hyperopia. Refractive lens exchange with a monofocal intraocular lens (IOL) and monovision by targeting dominant OS to emmetropia and non-dominant OD to myopia of -2.00D was planned for the patient. The IOL power was calculated by multiple formulae and we decided to implant +46.0D in OD and +47.0D in OS calculated using personalized A-constant. At post-op day 15, no complications were noted, UDVA in OD was 20/250 and in OS was 20/200 and CDVA was 20/125 OU, uncorrected near visual acuity (UNVA) was N18 OU with a refraction of -2.00DS/-2.50DC @95 degrees in OD and +0.25DS/ -1.75DC @125 degrees in OS (Monovision) which was stable even at 6 months follow up RLE in high hyperopia requires meticulous planning and biometry to give good results. Monovision can be planned in such a case to deliver spectacle independence. It can thus be a valuable tool in the armament of refractive surgeon.

Bilateral blindness with a single bullet injury

Gunshot injuries are a rising concern, which can have ocular involvement in almost 2% of cases. We present a case of a 35-year-old woman with accidental gunshot injury with no perception of light Oculus Uterque (OU). OD had disk pallor and OS, a repaired corneoscleral perforation. The bullet entered the left orbit perforating the left globe, crossed over to the opposite side, and exited through the right temple. Noncontrast computed tomography (NCCT) head revealed comminuted fractures of the roof, lateral and medial orbital walls. Multiple tiny bony fragments and foreign bodies were seen in the retrobulbar region of OD in relation to the optic nerve near the optic disk. This case highlights that gunshot injuries to the eye have high morbidity, but they are largely preventable as most injuries are unintentional, as was seen in this case. The priority should be to spread awareness and sensitize the masses regarding preventive factors.

OCULAR FINDINGS AND SELECT OPHTHALMIC DIAGNOSTIC TESTS IN CAPTIVE AMERICAN WHITE PELICANS (PELECANUS ERYTHRORHYNCHOS).

The aim of this study was to establish normal ophthalmic parameters for select diagnostic tests in American white pelicans (Pelecanuserythrorhynchos). Twenty-one zoo-housed American white pelicans were manually restrained for noninvasive ocular diagnostic testing and complete ophthalmic examination. Tear production quantification using the phenol red thread test (PRTT), fluorescein staining, and intraocular pressure (IOP) evaluation were performed. In addition, conjunctival aerobic bacterial culture and culture-independent 16S rRNA amplicon sequencing were performed on select eyes. Normal variations and ocular abnormalities detected during complete ophthalmic examination were documented and photographed. Direct pupillary light reflex, menace response, and palpebral reflex were present in all birds. The value (mean ± SD) for PRRT and IOP was 14.9 ± 7.84 mm/15 sec and 9.0 ± 1.41 mm Hg oculus uterque, respectively. Conjunctival culture in nine birds revealed no growth for six birds and Staphylococcus aureus growth in three birds. A high relative abundance of Mycoplasma sp. was detected in all samples based on 16S rRNA sequencing. The normal pelican eye was found to have relative conjunctival hyperemia, absent filoplumes, iris color ranging from light blue to brown, and a subcircular vertically elongated pupil. Ophthalmic abnormalities were noted in 10 of 21 birds. Common findings included corneal fibrosis, cataracts, and asteroid hyalosis. The most common ophthalmic abnormality in this species was cataracts.

Severe ocular side effects with acetazolamide: Case report

Abstract Clinical case A 44-year-old woman arrived in the emergency department complaining of decreased visual acuity (VA) in oculus uterque (OU) of 4 h onset. Signs of myopia, increased intraocular pressure (IOP) in OU, and a narrow grade II anterior chamber (AC) were observed. In the posterior segment ultrasound scan, a choroidal peripheral detachment is evident, and a lenticular thickness of 4.05 mm is measured in the anterior segment of the right eye (OD) and 4.00 mm in the left eye (OS). On treatment with oral with naproxen (non-steroidal anti-inflammatory drug), and acetazolamide for migraine. The acetazolamide is suspended and topical treatment is started with timolol and brimonidine every 12 h, with prednisolone and ayclopentolate every 8 h. In the follow-up, a gradual reduction of myopia and lens thickness is observed, as well as anterior chamber expansion. In the last control, the patient had a sphere of −0.75 diopters (D) in OD and −0.25 D in OS. IOP was 15 mmHg in OU and AC was grade III . The ultrasound showed a lens thickness of 3.59 mm in OD and 3.61 mm in OS. Conclusion This was an iatrogenic case of acute angle closure induced by an anterior displacement of the irido-lenticular complex, secondary to the use of acetazolamide. The treatment of this condition involves suspending the drug responsible and applying topical corticosteroids, hypotensive and cycloplegic eye drops, with the aim of lowering the eye pressure and the degree of myopia due to the re-positioning of the irido-lenticular complex.

Reacción ocular adversa a la acetazolamida: a propósito de un caso

Clinical caseA 44-year-old woman arrived in the emergency department complaining of decreased visual acuity (VA) in oculus uterque (OU) of 4hours onset. Signs of myopia, increased intraocular pressure (IOP) in OU, and a narrow grade II anterior chamber (AC) were observed. In the posterior segment ultrasound scan, a choroidal peripheral detachment is evident, and a lenticular thickness of 4.05mm is measured in the anterior segment of the right eye (OD) and 4.00mm in the left eye (OS). On treatment with oral with naproxen (non-steroidal anti-inflammatory drug), and acetazolamide for migraine. The acetazolamide is suspended and topical treatment is started with timolol and brimonidine every 12hours, with prednisolone and ayclopentolate every 8hours. In the follow-up, a gradual reduction of myopia and lens thickness is observed, as well as anterior chamber expansion. In the last control, the patient had a sphere of −0.75 diopters (D) in OD and −0.25 D in OS. IOP was 15mmHg in OU and AC was grade III. The ultrasound showed a lens thickness of 3.59mm in OD and 3.61mm in OS. ConclusionThis was an iatrogenic case of acute angle closure induced by an anterior displacement of the irido-lenticular complex, secondary to the use of acetazolamide. The treatment of this condition involves suspending the drug responsible and applying topical corticosteroids, hypotensive and cycloplegic eye drops, with the aim of lowering the eye pressure and the degree of myopia due to the re-positioning of the irido-lenticular complex.

Silent Giant Cell Arteritis in an Elderly Korean Woman

Giant cell arteritis (GCA) is a rare disease among Asians. Arteritic anterior ischemic optic neuropathy, which accompanies GCA, has not yet been reported in Koreans. Diagnosis of GCA is difficult if typical symptoms other than visual loss are absent. Here, we report a case of an 83-year-old Korean woman presenting with sudden visual loss in both eyes (oculus uterque, OU). Her visual acuities included perception of light in the right eye (oculus dexter, OD) and perception of hand motion in the left eye (oculus sinister, OS). The results of the Hardy-Rand-Rittler test and Ishihara test showed total dyschromatopsia OU. The Goldmann perimetry test revealed a total field defect OD and paracentral island OS. Fundus examination revealed chalky-white disc swelling OU. Other systemic symptoms and signs were unremarkable. The erythrocyte sedimentation rate, C-reactive protein and platelet count were highly elevated. Temporal artery biopsy revealed multiple lymphocytes and multinucleated giant cells in the arterial media layer. To our knowledge, this is the first report of GCA in a Korean that has been confirmed with temporal artery biopsy. In conclusion, silent GCA can occur in Koreans, and hence, elderly patients presenting with chalky-white disc swelling, and corresponding laboratory findings must be evaluated for GCA.

Systemic Hypertension and Hypertensive Retinopathy Following PPA Overdose in a Dog

A 4 yr old spayed female Labrador retriever was examined 4 hr after ingesting an overdose of phenylpropanolamine (PPA). Clinical signs included anxiety, piloerection, mucosal ulceration, cardiac arrhythmia, mydriasis, and hyphema. Clinicopathologic abnormalities included elevated creatine kinase (CK) and aspartate aminotransferase (AST), proteinuria, and pigmenturia. Ventricular tachycardia and severe systemic hypertension were documented. Hyphema and retinal detachment were documented oculus uterque (OU). Phenoxybenzamine, sotalol, and esmolol resolved the ventricular tachycardia, and blood pressure was controlled with nitroprusside. All clinicopathologic and cardiac abnormalities resolved within 7 days, and ocular changes resolved within 1 mo. Monitoring of blood pressure and rapid pharmacologic intervention were successful in controlling hypertension secondary to PPA overdose and minimizing retinal damage.

Sarcoidosis of the orbit as the first manifestation of systemic sarcoidosis (clinical case)

A clinical case of sarcoidosis of the orbit as the first manifestation of systemic sarcoidosis is presented. A patient (born 1961) was referred with diplopia, gradual visual acuity of both eyes decrease during the last 8 years. The objective status at the ophthalmologist examination in 2009: temporal deviation of both eyes (10° right, 15° left), I degree left-side ptosis. Refraction -2,5 dioptre. Eye convergence and abduction impairment. Oculus Uterque - cornea is transparent, conjunctive appears normal, the anterior chamber is of medium depth, aqueous humor is transparent, iris is structured, the pupil is round, light reaction is normal, nuclear sclerosis. «String of pearls» opacity of vitreous body. The fundus of the eye: optic disc is pale pink with temporal discoloration, temporal border is not sharp, arteries are contracted, twisted, veins are of different caliber, macular reflex is fuzzy. Consolidation locus 0.9 mm with an acoustic above the optic nerve projection and posterior acoustic enhancement were found on the B-scan ocular ultrasonography. No signs of a mass were observed. Retroocular tissues are of normal density, with hyperintense 0.5-0.9 mm focuses in the internal segment (ultrasonographic signs of fibrosis). A diagnosis of orbital granulomas was proposed, the preliminary diagnosis: «Eye sarcoidosis, orbit sarcoidosis, sarcoid angiopathy». In June 2009 patient developed a nodular erythema on lower limbs, reported the joint pain, fever. Lung dissemination was determined on the chest X-ray, the patient was referred to phtysiologist and pulmonologist. The Mantoux test of 2 TU was negative, the diagnosis of tuberculosis was ruled out. The adequate therapy was administered. Thus, the eye involvement can be the first and only clinical feature of sarcoidosis and make the physician think about the systemic disorder debut.

Conjunctival lymphoma arising from reactive lymphoid hyperplasia

Extra nodal marginal zone B-cell lymphoma (EMZL) of the conjunctiva typically arises in the marginal zone of mucosa-associated lymphoid tissue. The pathogenesis of conjunctival EMZL remains unknown. We describe an unusual case of EMZL arising from reactive lymphoid hyperplasia (RLH) of the conjunctiva. A 35-year-old woman had fleshy salmon-pink conjunctival tumors in both eyes, oculus uterque (OU). Specimens from conjunctival tumors in the right eye, oculus dexter (OD), revealed a collection of small lymphoid cells in the stroma. Immunohistochemically, immunoglobulin (Ig) light chain restriction was not detected. In contrast, diffuse atypical lymphoid cell infiltration was noted in the left eye, oculus sinister (OS), and positive for CD20, a marker for B cells OS. The tumors were histologically diagnosed as RLH OD, and EMZL OS. PCR analysis detected IgH gene rearrangement in the joining region (JH) region OU. After 11 months, a re-biopsy specimen demonstrated EMZL based on compatible pathological and genetic findings OD, arising from RLH. This case suggests that even if the diagnosis of the conjunctival lymphoproliferative lesions is histologically benign, confirmation of the B-cell clonality by checking IgH gene rearrangement should be useful to predict the incidence of malignancy.

Comparison of the effect of hypertonic hydroxyethyl starch and mannitol on the intraocular pressure in healthy normotensive dogs and the effect of hypertonic hydroxyethyl starch on the intraocular pressure in dogs with primary glaucoma

The purpose of this study was to determine if intravenous hypertonic hydroxyethyl starch (7.5%/6%) (HES) could decrease the intraocular pressure (IOP) in healthy normotensive dogs, and compare its effect with that of mannitol (20%) (experimental study). In addition, the potential IOP-lowering effect of hypertonic HES was evaluated in six dogs with primary glaucoma (clinical study). Experimental study: eight male ophthalmoscopically and clinically healthy Beagles were included in this study. The IOP of each dog was measured by applanation tonometry in both eyes to obtain control values at 10:00, 10:15, 10:30, 10:45, 11:00 a.m., and then every hour until 6:00 p.m. prior to the first treatment (control period). Each dog received, with at least 2-week intervals and in a random order, an intravenous (IV) infusion of 4 mL/kg hypertonic HES (1.2 g/kg NaCl; 0.96 g/kg HES) and 4 mL/kg mannitol 20% (1 g/kg) over a period of 15 min starting at 10:00 a.m. IOP was measured oculus uterque (OU) at the same time intervals as in the control study. The differences in IOP between the treatment groups and the baseline IOP (before the start of infusion), between oculus sinister (OS) and oculus dexter (OD) and between the same time points of all groups were determined with a Student's t-test for paired samples (P = 0.05). Clinical study: six dogs with primary glaucoma (representing seven eyes) received an IV infusion of 4 mL/kg hypertonic HES over a period of 15 min. IOP was measured before and 15 and 30 min after starting the infusion. Experimental study: no significant difference between IOP of both eyes was found. A significant decrease in IOP from baseline value was recorded at 15, 30, 45, and 60 min after the start of mannitol infusion (mean amplitude in IOP decrease 3.21 mmHg; P < 0.05) and at 15 and 30 min in dogs treated with HES (mean amplitude in IOP decrease 2.43 mmHg; P < 0.05). At 120 and 180 min there was a significantly higher IOP (P < 0.05) in HES treatment group compared to the values of the control group. Clinical study: in 5/7 eyes diagnosed with primary glaucoma a maximum decrease in IOP of an average of 24% from the baseline value (IOP before start of the infusion) was observed (range of decrease 2-21 mmHg). In three of these five cases the maximum decrease was reached at 15 min and in two cases at 30 min. In one case an increase in IOP of 35% (+ 18 mmHg) was seen after 15 min and 26% (+ 13 mmHg) after 30 min. Case 4 showed an increase in IOP of 5% (+ 3 mmHg) after 15 min and a decrease of 6% (- 4 mmHg) after 30 min. Intravenous hypertonic HES is comparable to intravenous mannitol 20% in lowering the intraocular pressure in healthy normotensive dogs. But this effect lasted half an hour longer after mannitol. In 6/7 eyes with primary glaucoma, hypertonic HES decreased IOP.