A case report of anterior visual pathway aplasia

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Conclusion The current photo essay highlights the multimodal imaging characteristics of RD. Multicolor composite image with blue and green channels appears most effective in picking them up. Multimodal imaging helps in picking up RD, and thus, prognosticates patients with AMD.

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Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil.

Figure 3:  (a and b) Near‑infrared autofluorescence  (a) and blue autofluorescence (b) highlight the area of retinal pigment epithelium atrophy. (c) Infrared reflectance fails to highlight the drusen. (d) Blue reflectance image shows refractile drusen as hyper‑reflectant lesions (thick white arrow). Soft drusen appears mildly hyper‑reflectant with surrounding dark borders (thin white arrow). Arrowhead shows the area of retinal pigment epithelium atrophy. (e) Green reflectance image distinctly highlights the refractile drusen as hyper‑reflectant material (thick white arrow), whereas soft drusen as mildly hyper‑reflectant with dark borders (thin white arrow) surrounding it with distinct retinal pigment epithelium atrophic area (arrowheads)

Conflicts of interest There are no conflicts of interest.

References 1. Oishi A, Thiele S, Nadal J, Oishi M, Fleckenstein M, Schmid M, et al. Prevalence, natural course, and prognostic role of refractile drusen in age‑related macular degeneration. Invest Ophthalmol Vis Sci 2017;58:2198‑206. 2. Gass  JD. Drusen and disciform macular detachment and degeneration. Arch Ophthalmol 1973;90:206‑17.

be composed of calcium, and thus, sometimes also referred to as “calcified drusen.”[2] Oishi et al. have shown in their recent study that patients with RD are at a risk of developing central GA.[1] Suzuki et al. recently concluded in their study that these were probably a stage of drusen regression, which was marked by a loss of RPE; thus, contributing to the development of GA in a mean period of 2.5 years.[3,4]

3. Suzuki  M, Curcio  CA, Mullins  RF, Spaide  RF. Refractile Drusen: Clinical imaging and candidate histology. Retina 2015;35:859‑65.

A case report of anterior visual pathway aplasia

Keywords: Central nervous system malformations, no light perception, ocular malformations, Optic nerve aplasia

Jakkidi Prathibha Reddy, Prabhu M Shanker, Geetha Ganesan, Rajesh Prabu

 A 6‑year‑old male  child presented with no vision in both eyes, born to a nonconsanguineous marriage with uneventful perinatal period. Physical and general examination was normal. Ocular examination showed no light perception in both eyes. Anterior segment was within normal limits. Dilated fundus examination showed absence of optic disk and central retinal vessels [Figs. 1a and b, 2a and b]. B‑scan echography showed normal globe on both

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Department of Medical Retina,  Sankara Eye Hospital, Coimbatore, Tamil Nadu, India Correspondence to: Dr. Jakkidi Prathibha Reddy, Sankara Eye Hospital, Sathy Road, Sivanandapuram, Coimbatore ‑ 641 035, Tamil Nadu, India. E‑mail: [email protected] Manuscript received: 05.03.18; Revision accepted: 20.08.18

4. Klein  ML, Ferris FL 3rd, Armstrong  J, Hwang  TS, Chew  EY, Bressler SB, et al. Retinal precursors and the development of geographic atrophy in age‑related macular degeneration. Ophthalmology 2008;115:1026‑31.

Case Report

This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution‑NonCommercial‑ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non‑commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. For reprints contact: [email protected] Cite this article as: Reddy JP, Shanker PM, Ganesan G, Prabu R. A case report of anterior visual pathway aplasia. Indian J Ophthalmol 2019;67:129-31.

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Figure 1: (a) Fundus picture of RE showing no optic disk, choroidal tessellation is seen and (b) fundus picture of LE showing no optic disk, choroidal tessellation is seen

Figure 2: (a) Right eye B‑scan image showing normal globe with no optic nerve shadow and (b) left eye B‑scan image showing normal globe with no optic nerve shadow

Figure 3: Axial T2 weighted image showing absent optic chiasma

sides and absence of optic nerve shadow. Flash   visual evoked potential (VEP) showed no reproducible and consistent response suggesting absent response from both visual pathways. Magnetic resonance imaging (MRI) of the orbits and brain disclosed bilateral absence of the optic nerves, chiasm, and proximal part of optic tracts with no other significant abnormality in brain.

Figure 4: Coronal T1 weighted image showing absent chiasma

Discussion

Bilateral optic nerve aplasia is rare, with most reported cases having ocular and major  Central nervous system (CNS) malformations.[5,6] Our case is peculiar as the child presented with bilateral aplasia of optic nerve, chiasm, and tracts with no other ocular anomalies and no neurological abnormalities.

Optic nerve aplasia (ONA) falls within a malformation complex which is fundamentally distinct from optic nerve hypoplasia, as evidenced by its tendency to occur unilaterally with frequent association of microphthalmos and other ocular malformations which are confined to the involved eye.[1,2] Histopathological examination usually demonstrates a vestigial dural sheath entering the sclera in its normal position, as well as retinal dysplasia with rosette formation.[3] Weiter et al.[2] believed that the failure of the paraxial mesoderm to develop was probably not the cause of aplasia of the optic nerve because the dural sheath was present in the majority of their cases. Instead, they suggested that the ventral invagination of the optic vesicle causes nerve fiber misdirection and secondary atrophy. This was concurrent with Mann[4] that failure of the fetal fissure to form causes misdirection of the nerve fibers [Figs. 3 and 4].

This leads to their failure to reach the lateral geniculate body and their necrosis.

Conclusion

Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil.

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Conflicts of interest There are no conflicts of interest.

editors. Walsh and Hoyts Clinical Neuro‐Ophthalmology. 5th ed., Vol. 1. Baltimore: Williams and Wilkins; 1998. p. 799‑800.

References

4. Mann I. The Development of the Human Eye. New York: Greene and Stratton, Inc.; 1964. p. 29.

1. Little LE, Whitmore PV, Wells TW Jr. Aplasia of the optic nerve. J Pediatr Ophthalmol 1976;13:84‑8.

5. Storm RL, PeBenito R. Bilateral optic nerve aplasia associated with hydranencephaly. Ann Ophthalmol 1984;16:988‑92.

2. Weiter JJ, McLean IW, Zimmerman LE. Aplasia of the optic nerve and disk. Am J Ophthalmol 1977;83:569‑76.

6. Brodsky MC, Atreides SP, Fowlkes JL, Sundin OH. Optic nerve aplasia in an infant with congenital hypopituitarism and posterior pituitary ectopia. Arch Ophthalmol 2004;122:125‑6.

3. Brodsky MC. Anomalies of the optic disc. In: Miller NR, Newman NJ,

Eccrine intraepidermal poroma of the eyelid Sukriti Ahuja, Apjit Kaur, Madhumati Goel1, Shivanjali Raghuvanshi1, Ajay Arya Key words: Benign, eyelid, intraepidermal, poroma

Eccrine poromas are benign, slow‑growing tumors originating from the intraepidermal part of the eccrine sweat duct.[1] They occur as pink, red, or flesh‑colored, papules or nodules with smooth or verrucous surfaces, typically in palms and soles.[2] They present in middle and elderly aged individuals and have no gender and race predilection. Pigmentation and multifocality are the rare features.[3] Carbon dioxide laser‑assisted removal, electrosurgical destruction, and surgical excision with clear margins are the treatment modalities available.[4]

Case Report A 70‑year‑old nondiabetic male presented with mass over the medial aspect of his right upper eyelid. The lesion started 6  years back as multiple pea‑sized masses, which gradually coalesced to form a single mass, associated with on‑and‑off foul‑smelling discharge from the base of mass. A similar mass concurrently appeared on the medial aspect of his right thigh.

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Departments of Ophthalmology, and 1Pathology, King George’s Medical University, Lucknow, Uttar Pradesh, India Correspondence to: Dr. Sukriti Ahuja, Departments of Ophthalmology, King George’s Medical University, Lucknow, Uttar Pradesh ‑ 226 003, India. E‑mail: [email protected] Manuscript received: 23.04.18; Revision accepted: 10.09.18

On examination, the pigmented mass measured 3 × 1 cm, was well defined, soft to firm in consistency, nonpulsatile, non‑tender, noncompressible, multiloculated, and extended up to the nasal bridge. The lesion on the thigh measured 3  ×  2  cm in size, with features similar to the eyelid lesion [Fig. 1]. Pus from the mass reported sterile for bacterial and fungal elements. Incisional biopsy revealed intraepidermal eccrine poroma. Histopathology showed the presence of glycogen‑filled cuboidal tumor cells with a round basophilic nucleus along with ductal lumina and cystic spaces lined by an eosinophilic, PAS‑positive, diastase‑resistant cuticle [Fig. 2a and b]. There was prevalence of amylophosphorylase and succinic dehydrogenase enzymes on enzyme histochemical staining, and immunohistochemistry showed poroid cells to be exclusively positive for cytokeratin (CK) 1/5/10/14, CK5/8, and CK14, which are expressed in the outer cells of normal dermal sweat ducts.[5] Excision of the mass was done under local anesthesia as a definitive management. No recurrence reported even after 6 months [Fig. 3].

Conclusion Eccrine intraepidermal poroma is a relatively rare benign tumor of the eyelid. Complete excision of the tumor is curative. Acknowledgments Manuscript has been read and approved by all the authors and the requirements for authorship as stated earlier in this document have been met. Each author believes that the manuscript represents honest work. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution‑NonCommercial‑ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non‑commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. For reprints contact: [email protected] Cite this article as: Ahuja S, Kaur A, Goel M, Raghuvanshi S, Arya A. Eccrine intraepidermal poroma of the eyelid. Indian J Ophthalmol 2019;67:131-2.